Skip to main content

Advertisement

SpringerLink
Log in

Mapping the Diverse Genetic Disorders and Rare Diseases Among the Syrian Population: Implications on Refugee Health and Health Services in Host Countries

  • Review Paper
  • Published:
Journal of Immigrant and Minority Health Aims and scope Submit manuscript

Abstract

The aim of this systematic review is to provide physicians and researchers with a comprehensive list of reported genetic disorders in patients of Syrian origin—those who have become part of the largest displaced population globally—and to highlight the need to consider migrant population-based risk for the development of genetic disease control and prevention programs. This review was performed based on the 2015 PRISMA and the international prospective register of systematic reviews. The present review reports on a total of 166 genetic disorders (only 128 reported on OMIM) identified in the Syrian population. Of these disorders, 27% are endocrine-, nutritional- and metabolic-related diseases. Second to metabolic disorders are congenital malformations, deformations and chromosomal abnormalities. Diseases of the blood and the blood-forming organs accounted for 13% of the total genetic disorders. The majority of the genetic disorders reported in Syrian patients followed an autosomal recessive mode of inheritance. These findings are a reflection of the high rates of consanguineous marriages that favor the increase in incidence of these diseases. From the diseases that followed an autosomal recessive mode of inheritance, 22% are reported to be only present in Syria and other regional countries. Twelve of these genetic diseases were identified to be strictly diagnosed in individuals of Syrian origin. The present systematic review highlights the need to develop programs that target genetic disorders affecting Syrian migrants in host countries. These programs would have potential financial and economic benefits, as well as a positive impact on the physical and mental health of members of the Syrian refugee community and those of their host societies. In turn, this would decrease the burden on the health systems in host countries.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

Similar content being viewed by others

Data Availability

The data that support the findings of this study are available upon request.

References

  1. Human Rights Watch. World Report 2017: Syria. 2017.

  2. United Nations High Commissioner for Refugees. Syrian Regional Refugee Response. 2018.

  3. million refugees in the region have little reason to hope for a better future for Syria [press release]. 2017.

  4. Eurostat. Asylum Statistics 2017.

  5. United Nations High Commissioner for Refugees. Inter-Agency Regional Response for Syrian Refugees Health and Nutrition Bulletin. 2013.

  6. Abbott KL, Woods CA, Halim DA, Qureshi HA. Pediatric care during a short-term medical mission to a Syrian refugee camp in Northern Jordan. Avicenna J Med. 2017;7(4):176–81.

    PubMed  PubMed Central  Google Scholar 

  7. World Health Organization. Health services for refugees in Turkey. 2017.

  8. United Nations High Commissioner for Refugees. Health Services for Syrian Refugees in Mount Lebanon and Beirut. 2016.

  9. Langlois EV, Haines A, Tomson G, Ghaffar A. Refugees: towards better access to health-care services. Lancet. 2016;387(10016):319–21.

    PubMed  PubMed Central  Google Scholar 

  10. Daynes L. The health impacts of the refugee crisis: a medical charity perspective. Clin Med (Lond). 2016;16(5):437–40.

    Google Scholar 

  11. Kousoulis AA, Ioakeim-Ioannidou M, Economopoulos KP. Access to health for refugees in Greece: lessons in inequalities. Int J Equity Health. 2016;15(1):122.

    PubMed  PubMed Central  Google Scholar 

  12. Carballo M, Hargreaves S, Gudumac I, Maclean EC. Evolving migrant crisis in Europe: implications for health systems. Lancet Global Health. 2017;5(3):e252–e253253.

    PubMed  Google Scholar 

  13. Javaher P, Kaariainen H, Kristoffersson U, Nippert I, Sequeiros J, Zimmern R, et al. EuroGentest: DNA-based testing for heritable disorders in Europe. Commun Genet. 2008;11(2):75–120.

    Google Scholar 

  14. Gushulak BD, MacPherson DW. The basic principles of migration health: population mobility and gaps in disease prevalence. Emerg Themes Epidemiol. 2006;3:3.

    PubMed  PubMed Central  Google Scholar 

  15. Tadmouri GO, Nair P, Obeid T, Al Ali MT, Al Khaja N, Hamamy HA. Consanguinity and reproductive health among Arabs. Reprod Health. 2009;6:17.

    PubMed  PubMed Central  Google Scholar 

  16. Teeuw ME, Loukili G, Bartels EA, ten Kate LP, Cornel MC, Henneman L. Consanguineous marriage and reproductive risk: attitudes and understanding of ethnic groups practising consanguinity in Western society. Eur J Hum Genet. 2014;22(4):452–7.

    PubMed  Google Scholar 

  17. Becker R, Keller T, Wegner RD, Neitzel H, Stumm M, Knoll U, et al. Consanguinity and pregnancy outcomes in a multi-ethnic, metropolitan European population. Prenat Diagn. 2015;35(1):81–9.

    Google Scholar 

  18. Angastiniotis M, Vives Corrons JL, Soteriades ES, Eleftheriou A. The impact of migrations on the health services for rare diseases in Europe: the example of haemoglobin disorders. Sci World J. 2013;2013:727905.

    Google Scholar 

  19. Shamseer L, Moher D, Clarke M, Ghersi D, Liberati A, Petticrew M, et al. Preferred reporting items for systematic review and meta-analysis protocols (PRISMA-P) 2015: elaboration and explanation. BMJ (Clin Res ed). 2015;350:g7647.

    Google Scholar 

  20. Booth A, Clarke M, Ghersi D, Moher D, Petticrew M, Stewart L. Establishing a minimum dataset for prospective registration of systematic reviews: an international consultation. PLoS ONE. 2011;6(11):e27319.

    CAS  PubMed  PubMed Central  Google Scholar 

  21. Shammas C, Neocleous V, Toumba M, Costi C, Phedonos AA, Efstathiou E, et al. Overview of genetic defects in endocrinopathies in the island of Cyprus; evidence of a founder effect. Genet Test Mol Biomark. 2012;16(9):1073–9.

    CAS  Google Scholar 

  22. Carmi N, Lev D, Leshinsky-Silver E, Anikster Y, Blumkin L, Kivity S, et al. Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep. Eur J Paediatr Neurol. 2015;19(6):733–6.

    PubMed  Google Scholar 

  23. Filoni DN, Pesi R, Allegrini S, Camici M, Tozzi MG. A native electrophoretic technique to study oligomerization and activity of cytosolic 5'-nucleotidase II. Anal Bioanal Chem. 2013;405(27):8951–4.

    CAS  PubMed  Google Scholar 

  24. Feldman JG, Lee SL, Seligman B. Occurrence of acute leukemia in females in a genetically isolated population. Cancer. 1976;38(6):2548–50.

    CAS  PubMed  Google Scholar 

  25. Niell BL, Long JC, Rennert G, Gruber SB. Genetic anthropology of the colorectal cancer-susceptibility allele APC I1307K: evidence of genetic drift within the Ashkenazim. Am J Hum Genet. 2003;73(6):1250–60.

    CAS  PubMed  PubMed Central  Google Scholar 

  26. Parlak M, Ellidag HY, Turkkahraman D. High-dose hook effect in 17-hydroxyprogesterone assay in a patient with 21-hydroxylase deficiency. J Clin Res Pediatr Endocrinol. 2015;7(4):329–32.

    PubMed  PubMed Central  Google Scholar 

  27. Al Kandari H, Katsumata N, Alexander S, Rasoul MA. Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum. J Clin Endocrinol Metab. 2006;91(8):2821–6.

    CAS  PubMed  Google Scholar 

  28. Parry DA, Brookes SJ, Logan CV, Poulter JA, El-Sayed W, Al-Bahlani S, et al. Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. Am J Hum Genet. 2012;91(3):565–71.

    CAS  PubMed  PubMed Central  Google Scholar 

  29. Hamminki K, Li X, Försti A, Sundquist J, Sundquist K. Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases. BMC Med Genet. 2013;14:88.

    Google Scholar 

  30. Usanga EA, Ameen R. Glucose-6-phosphate dehydrogenase deficiency in Kuwait, Syria, Egypt, Iran, Jordan and Lebanon. Hum Hered. 2000;50(3):158–61.

    CAS  PubMed  Google Scholar 

  31. Salem AH, Batzer MA. High frequency of the D allele of the angiotensin-converting enzyme gene in Arabic populations. BMC Res Notes. 2009;2:99.

    PubMed  PubMed Central  Google Scholar 

  32. Tas S. Strong association of a single nucleotide substitution in the 3'-untranslated region of the apolipoprotein-CIII gene with common hypertriglyceridemia in Arabs. Clin Chem. 1989;35(2):256–9.

    CAS  PubMed  Google Scholar 

  33. Fares F, Axelord Ran S, David M, Zelnik N, Hecht Y, Khairaldeen H, et al. Identification of two mutations for ataxia telangiectasia among the Druze community. Prenat Diagn. 2004;24(5):358–62.

    CAS  PubMed  Google Scholar 

  34. Stoelinga B, Oosting BJ, Bellot FE, Kok M, de Graaf IM. The many manifestations of Behcet's disease. Ned Tijdschr Geneeskd. 2011;155(42):A3435.

    PubMed  Google Scholar 

  35. Alhalabi M, Kenj M, Monem F, Mahayri Z, Abou Alchamat G, Madania A. High prevalence of genetic abnormalities in Middle Eastern patients with idiopathic non-obstructive azoospermia. J Assist Reprod Genet. 2013;30(6):799–805.

    PubMed  PubMed Central  Google Scholar 

  36. Teebi AS. Autosomal recessive disorders among Arabs: an overview from Kuwait. J Med Genet. 1994;31(3):224–33.

    CAS  PubMed  PubMed Central  Google Scholar 

  37. El-Kishawi ASA, Al-Saleh Q. Neonatal Bartter syndrome with early hyperkalemia: an unusual presentation in twins. Kuwait Med J. 2005;37(2):130–2.

    Google Scholar 

  38. Madania A, Zarzour H, Jarjour RA, Ghoury I. Combination of conventional multiplex PCR and quantitative real-time PCR detects large rearrangements in the dystrophin gene in 59% of Syrian DMD/BMD patients. Clin Biochem. 2010;43(10–11):836–42.

    CAS  PubMed  Google Scholar 

  39. Jarjour RA, Murad H, Moasses F, Al-Achkar W. Molecular update of beta-thalassemia mutations in the Syrian population: identification of rare beta-thalassemia mutations. Hemoglobin. 2014;38(4):272–6.

    CAS  PubMed  Google Scholar 

  40. Mikati MZP, Karam P, Habbal MZ, Rahi A. Novel mutation Causing partial biotinidase deficiency in a syrian boy with infantile spasms and retardation. Child Neural. 2006;21:978–81.

    Google Scholar 

  41. Lajin B, Alhaj Sakur A, Alachkar A. Association between polymorphisms in apoptotic genes and susceptibility for developing breast cancer in Syrian women. Breast Cancer Res Treat. 2013;138(2):611–9.

    CAS  PubMed  Google Scholar 

  42. Bar-Sade RB, Kruglikova A, Modan B, Gak E, Hirsh-Yechezkel G, Theodor L, et al. The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim. Hum Mol Genet. 1998;7(5):801–5.

    CAS  PubMed  Google Scholar 

  43. Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B. Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature. Am J Med Genet A. 2004;124a(1):28–34.

    PubMed  Google Scholar 

  44. Khuffash FA, Barakat MH, Shaltout AA, Farwana SS, Adnani MS, Tungekar MF. Coeliac disease among children in Kuwait: difficulties in diagnosis and management. Gut. 1987;28(12):1595–9.

    CAS  PubMed  PubMed Central  Google Scholar 

  45. Aljabban L, Kassab L, Bakoura NA, Alsalka MF, Maksoud I. Rapid-onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumor syndrome with a homogenous enlargement of the pituitary gland: a case report. J Med Case Rep. 2016;10(1):328.

    PubMed  PubMed Central  Google Scholar 

  46. Shome DK, Al-Mukharraq H, Mahdi N, Ameen G, Farid E. Clinicopathological aspects of Chediak-Higashi syndrome in the accelerated phase. Saudi Med J. 2002;23(4):464–6.

    PubMed  Google Scholar 

  47. Sadek SA. Congenital bilateral choanal atresia. Int J Pediatr Otorhinolaryngol. 1998;42(3):247–56.

    CAS  PubMed  Google Scholar 

  48. Al-Achkar W, Azeiz G, Moassass F, Wafa A. Influence of CYP1A1, GST polymorphisms and susceptibility risk of chronic myeloid leukemia in Syrian population. Med Oncol (Northwood, London, England). 2014;31(5):889.

    Google Scholar 

  49. Freyer C, Stranneheim H, Naess K, Mourier A, Felser A, Maffezzini C, et al. Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid. J Med Genet. 2015;52(11):779.

    CAS  PubMed  PubMed Central  Google Scholar 

  50. Al-Antary N, Farghaly H, Aboulkassim T, Yasmeen A, Akil N, Al Moustafa AE. Epstein-Barr virus and its association with Fascin expression in colorectal cancers in the Syrian population: a tissue microarray study. Hum Vaccines Immunother. 2017;13(7):1573–8.

    Google Scholar 

  51. Lim SC, Friemel M, Marum JE, Tucker EJ, Bruno DL, Riley LG, et al. Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes. Hum Mol Genet. 2013;22(22):4460–73.

    CAS  PubMed  PubMed Central  Google Scholar 

  52. Levrat E, Aboukhamis I, Moerloose P, Farho J, Chamaa S, Reber G, et al. A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family. Blood Coagulat Fibrinol. 2011;22(2):148–50.

    Google Scholar 

  53. Helander A, Stödberg T, Jaeken J, Matthijs G, Eriksson M, Eggertsen G. Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation. Mol Genet Metab. 2013;110(3):342–4.

    CAS  PubMed  Google Scholar 

  54. Dimopoulou A, Fischer B, Gardeitchik T, Schroter P, Kayserili H, Schlack C, et al. Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. Mol Genet Metab. 2013;110(3):352–61.

    CAS  PubMed  Google Scholar 

  55. Wahab AA, Janahi IA, Hebi S, Al-Hamed M, Kambouris M. Cystic fibrosis in a child from Syria. Ann Trop Paediatr. 2002;22(1):53–5.

    PubMed  Google Scholar 

  56. Eskandarani HA. Cystic fibrosis transmembrane regulator gene mutations in Bahrain. J Trop Pediatr. 2002;48(6):348–50.

    CAS  PubMed  Google Scholar 

  57. Chaib H, Place C, Salem N, Dode C, Chardenoux S, Weissenbach J, et al. Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22. Hum Mol Genet. 1996;5(7):1061–4.

    CAS  PubMed  Google Scholar 

  58. Campbell DA, McHale DP, Brown KA, Moynihan LM, Houseman M, Karbani G, et al. A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22. J Med Genet. 1997;34(12):1015–7.

    CAS  PubMed  PubMed Central  Google Scholar 

  59. Punnose J, Agarwal MM, El Khadir A, Devadas K, Mugamer IT. Childhood and adolescent diabetes mellitus in Arabs residing in the United Arab Emirates. Diabetes Res Clin Pract. 2002;55(1):29–33.

    PubMed  Google Scholar 

  60. Elliott AM, Graham GE, Bernstein M, Mazer B, Teebi AS. Dyskeratosis congenita: an autosomal recessive variant. Am J Med Genet. 1999;83(3):178–82.

    CAS  PubMed  Google Scholar 

  61. Farooq M, Kurban M, Fujimoto A, Fujikawa H, Abbas O, Nemer G, et al. A homozygous frameshift mutation in the HOXC13 gene underlies pure hair and nail ectodermal dysplasia in a syrian family. Hum Mutat. 2013;34(4):578–81.

    CAS  PubMed  Google Scholar 

  62. Cameron JA. Corneal abnormalities in Ehlers-Danlos syndrome type VI. Cornea. 1993;12(1):54–9.

    CAS  PubMed  Google Scholar 

  63. Farooq M, Kurban M, Iguchi R, Abbas O, Fujimoto A, Fujikawa H, et al. Genetic analysis of epidermolysis bullosa: identification of mutations in LAMB3 and COL7A1 genes in three families. J Dermatol Sci. 2013;72(1):72–4.

    CAS  PubMed  Google Scholar 

  64. Alsheikheh A, Lieb W, Grehn F. Criswick-Schepens syndrome—familial exudative vitreoretinopathy. Report of six cases in two consanguineous families. Der Ophthalmologe. 2004;101(9):914–8.

    CAS  PubMed  Google Scholar 

  65. Rahim Adam KA, Al Rahman F, El Seed A, Karrar ZA, Gader AM. Combined factor V and factor VIII deficiency with normal protein C and protein C inhibitor. A family study. Scand J Haematol. 1985;34(5):401–5.

    CAS  PubMed  Google Scholar 

  66. Al-Allawi NA, Jubrael JM, Hilmi FA. Factor V Leiden in blood donors in Baghdad (Iraq). Clin Chem. 2004;50(3):677–8.

    CAS  PubMed  Google Scholar 

  67. Peretz H, Mulai A, Usher S, Zivelin A, Segal A, Weisman Z, et al. The two common mutations causing factor XI deficiency in Jews stem from distinct founders: one of ancient Middle Eastern origin and another of more recent European origin. Blood. 1997;90(7):2654–9.

    CAS  PubMed  Google Scholar 

  68. Kangsadalampai S, Chelvanayagam G, Baker R, Tiedemann K, Kuperan P, Board PG. Identification and characterization of two missense mutations causing factor XIIIA deficiency. Br J Haematol. 1999;104(1):37–433.

    CAS  PubMed  Google Scholar 

  69. Mattit H, Joma M, Al-Cheikh S, El-Khateeb M, Medlej-Hashim M, Salem N, et al. Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation. Eur J Med Genet. 2006;49(6):481–6.

    PubMed  Google Scholar 

  70. Raees-Karami SR, Jafarieh H, Ziyayi V, Shekarriz Foumani R, Aghighi Y. Evaluation of 20 years experience of fibrodysplasia ossificans progressiva in Iran: lessons for early diagnosis and prevention. Clin Rheumatol. 2012;31(7):1133–7.

    PubMed  Google Scholar 

  71. Mégarbané A, Tomey K, Wakim G. Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: report of another family. Am J Med Genet. 1998;73(1):67–71.

    Google Scholar 

  72. Justice CM, Den Z, Nguyen SV, Stoneking M, Deininger PL, Batzer MA, et al. Phylogenetic analysis of the Friedreich ataxia GAA trinucleotide repeat. J Mol Evol. 2001;52(3):232–8.

    CAS  PubMed  Google Scholar 

  73. Alasmar D. Gaucher disease in Syrian children: common mutations identification, and clinical futures. Ann Saudi Med. 2015;35(2):127–32.

    PubMed  PubMed Central  Google Scholar 

  74. Al-Gazali LI, Sztriha L, Skaff F, Haas D. Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same? Am J Med Genet. 2001;101(3):213–20.

    CAS  PubMed  Google Scholar 

  75. Al-Ani SS, Baker AA, Al-Athmani AK, Al-Jesmi BJ. Neonatal screening of glucose-6-phosphate dehydrogenase deficiency in Khorfakkan. United Arab Emirates Saudi Med J. 2008;29(12):1826–8.

    PubMed  Google Scholar 

  76. Assiri A, Saeed A, Alnimri A, Ahmad S, Saeed E, Jameel S. Five Arab children with glucose-galactose malabsorption. Paediatr Int Child Health. 2013;33(2):108–10.

    PubMed  Google Scholar 

  77. Bu R, Gutierrez MI, Al-Rasheed M, Belgaumi A, Bhatia K. Variable drug metabolism genes in Arab population. Pharmacogenomics J. 2004;4(4):260–6.

    CAS  PubMed  Google Scholar 

  78. Kollberg G, Tulinius M, Gilljam T, Ostman-Smith I, Forsander G, Jotorp P, et al. Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0. N Engl J Med. 2007;357(15):1507–14.

    CAS  PubMed  Google Scholar 

  79. Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffre B, Donati MA, et al. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology. 2004;63(6):1053–8.

    CAS  PubMed  Google Scholar 

  80. Petkovic V, Besson AL, Thevis M, Lochmatter D, Eblé A, Flück CE, et al. Evaluation of the biological activity of a growth hormone (GH) mutant (R77C) and Its impact on GH responsiveness and stature. J Clin Endocrinol Metab. 2007;92(8):2893–901.

    CAS  PubMed  Google Scholar 

  81. Mabrouk AM, Eapen VN. Hashimoto's thyroiditis in school girls in the United Arab Emirates. Saudi Med J. 2004;25(3):384–6.

    PubMed  Google Scholar 

  82. Zlotnick A, Ramot B, Hamosh P. Hemoglobin-H Disease with Persistent Hemoglobin "Bart's" in a Jewish Family of Aleppo-Urfalian Ancestrt. Israel Med J. 1964;23:57–63.

    CAS  PubMed  Google Scholar 

  83. Abu-Amero KK, Hellani A, Al-Mahed M, Al-Sheikh I. Spectrum of factor VIII mutations in Arab patients with severe haemophilia A. Haemophilia. 2008;14(3):484–8.

    CAS  PubMed  Google Scholar 

  84. Farooq M, Moustafa RM, Fujimoto A, Fujikawa H, Abbas O, Kibbi AG, et al. Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin. Dermatology. 2012;224(3):277–84.

    CAS  PubMed  Google Scholar 

  85. Herrmann W, Obeid R, Jouma M. Hyperhomocysteinemia and vitamin B-12 deficiency are more striking in Syrians than in Germans–causes and implications. Atherosclerosis. 2003;166(1):143–50.

    CAS  PubMed  Google Scholar 

  86. Al-Kateb H, Bautz EK, Luft FC, Bahring S. A splice mutation in a Syrian autosomal recessive hypercholesterolemia family causes a two-nucleotide deletion of mRNA. Circ Res. 2003;93(5):e49–50.

    CAS  PubMed  Google Scholar 

  87. Al-Kateb H, Bahring S, Hoffmann K, Strauch K, Busjahn A, Nurnberg G, et al. Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia. Circ Res. 2002;90(9):951–8.

    CAS  PubMed  Google Scholar 

  88. Hansen L, Tawamie H, Murakami Y, Mang Y, Ur Rehman S, Buchert R, et al. Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2013;92(4):575–83.

    CAS  PubMed  PubMed Central  Google Scholar 

  89. Tenenbaum-Rakover Y, Commenges-Ducos M, Iovane A, Aumas C, Admoni O, de Roux N. Neuroendocrine phenotype analysis in five patients with isolated hypogonadotropic hypogonadism due to a L102P inactivating mutation of GPR54. J Clin Endocrinol Metab. 2007;92(3):1137–44.

    CAS  PubMed  Google Scholar 

  90. Ahlbom BD, Yaqoob M, Larsson A, Ilicki A, Anneren G, Wadelius C. Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene. Hum Genet. 1997;99(2):186–90.

    CAS  PubMed  Google Scholar 

  91. Bhoj Elizabeth J, Li D, Harr M, Edvardson S, Elpeleg O, Chisholm E, et al. Mutations in TBCK, encoding TBC1-domain-containing kinase, lead to a recognizable syndrome of intellectual disability and hypotonia. Am J Hum Genet. 2016;98(4):782–8.

    CAS  PubMed  PubMed Central  Google Scholar 

  92. Lefevre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M, et al. Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet. 2004;13(20):2473–82.

    CAS  PubMed  Google Scholar 

  93. Khan I, Siddique I, Al-Awadi FM, Mohan K. Role of Na+/H+ exchanger isoform-1 in human inflammatory bowel disease. Canad J Gastroenterol. 2003;17(1):31–6.

    Google Scholar 

  94. Ramadan DG, Head RA, Al-Tawari A, Habeeb Y, Zaki M, Al-Ruqum F, et al. Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex. J Inherit Metab Dis. 2004;27(4):477–85.

    CAS  PubMed  Google Scholar 

  95. Guix Garcia J, Rodrigo Gomez JM, Aparisi Quereda L, Serra Desfilis MA, Garcia-Conde Gomez FJ, Wassel A. Lactose intolerance in Arabs. Revista Esp de las Enferm del Aparato Dig. 1974;43(1):25–34.

    CAS  Google Scholar 

  96. Hasan SM, Azmeh A, Mostafa O, Megarbane A. Coat's like vasculopathy in leber congenital amaurosis secondary to homozygous mutations in CRB1: a case report and discussion of the management options. BMC Res Notes. 2016;9:91.

    PubMed  PubMed Central  Google Scholar 

  97. Al-achkar W, Aljapawe A, Othman MAK, Wafa A. A de novo acute myeloid leukemia (AML-M4) case with a complex karyotype and yet unreported breakpoints. Mol Cytogenet. 2013;6(1):18.

    PubMed  PubMed Central  Google Scholar 

  98. Al-Achkar W, Moassass F, Youssef N, Wafa A. Correlation of p210 BCR-ABL transcript variants with clinical, parameters and disease outcome in 45 chronic myeloid leukemia patients. J BUON. 2016;21(2):444–9.

    PubMed  Google Scholar 

  99. Atrouni S, Daraze A, Tamraz J, Cassia A, Caillaud C, Megarbane A. Leukodystrophy associated with oligodontia in a large inbred family: fortuitous association or new entity? Am J Med Genet A. 2003;118a(1):76–81.

    PubMed  Google Scholar 

  100. Farah S, Abyad A, Mourad FH, Uthman S. Lynch syndrome: report of two Families from Lebanon and clinical review. Emirates Med J. 2001;200(19):181–6.

    Google Scholar 

  101. Al-Sultan FA, Anan G, Ahmed SAS. Clinical epidemiology of gestational diabetes in Kuwait. Kuwait Med J. 2004;36(3):195–8.

    Google Scholar 

  102. Shaheen R, Faqeih E, Seidahmed MZ, Sunker A, Alali FE, AlQahtani K, et al. A TCTN2 mutation defines a novel Meckel gruber syndrome locus. Hum Mutat. 2011;32(6):573–8.

    CAS  PubMed  Google Scholar 

  103. Abou Jamra R, Wohlfart S, Zweier M, Uebe S, Priebe L, Ekici A, et al. Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. Eur J Hum Genet. 2011;19(11):1161–6.

    CAS  PubMed  PubMed Central  Google Scholar 

  104. Murakami Y, Tawamie H, Maeda Y, Buttner C, Buchert R, Radwan F, et al. Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy. PLoS Genet. 2014;10(5):e1004320.

    PubMed  PubMed Central  Google Scholar 

  105. Ahmed I, Buchert R, Zhou M, Jiao X, Mittal K, Sheikh TI, et al. Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. Hum Mol Genet. 2015;24(11):3172–80.

    CAS  PubMed  PubMed Central  Google Scholar 

  106. Al Gazali LI, Sabarinathan DK, Khidir A. Microphthalmia and distal limb abnormalities in a child of consanguineous parents. Clin Dysmorphol. 1994;3(3):258–62.

    CAS  PubMed  Google Scholar 

  107. Bar-Yosef U, Abuelaish I, Harel T, Hendler N, Ofir R, Birk OS. CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds. Hum Genet. 2004;115(4):302–9.

    CAS  PubMed  Google Scholar 

  108. van Hasselt PM, Ferdinandusse S, Monroe GR, Ruiter JPN, Turkenburg M, Geerlings MJ, et al. Monocarboxylate Transporter 1 Deficiency and Ketone Utilization. N Engl J Med. 2014;371(20):1900–7.

    PubMed  Google Scholar 

  109. Alshubaili AF, Alramzy K, Ayyad YM, Gerish Y. Epidemiology of multiple sclerosis in Kuwait: new trends in incidence and prevalence. Eur Neurol. 2005;53(3):125–31.

    CAS  PubMed  Google Scholar 

  110. Al-Ajmi MO, Abdulla JK, Neubauer D. A case of merosin-negative congenital muscular dystrophy with extensive white matter abnormalities and electroencephalographic changes in a Syrian boy. Lebanese Med J. 2001;49(3):173–8.

    CAS  Google Scholar 

  111. Bögershausen N, Shahrzad N, Chong Jessica X, von Kleist-Retzow J-C, Stanga D, Li Y, et al. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet. 2013;93(1):181–90.

    PubMed  PubMed Central  Google Scholar 

  112. Matlik HN, Milhem RM, Saadeldin IY, Al-Jaibeji HS, Al-Gazali L, Ali BR. Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family. Pediatr Neurol. 2014;51(1):165–9.

    PubMed  Google Scholar 

  113. Harfouch-Hammoud EI, Daher NA. Susceptibility to and severity of tuberculosis is genetically controlled by human leukocyte antigens. Saudi Med J. 2008;29(11):1625–9.

    PubMed  Google Scholar 

  114. Chaikhouni A, Chouhan L, Pomposiello C, Banna A, Mahrous F, Thomas G, et al. Myocardial infarction in Qatar: the first 2515 patients. Clin Cardiol. 1993;16(3):227–30.

    CAS  PubMed  Google Scholar 

  115. Saeed B, Mazloum H. Recurrent nephrotic syndrome after renal transplant in children. Exp Clin Transplant. 2016;14(6):623–8.

    PubMed  Google Scholar 

  116. Sergi C, Beedgen B, Kopitz J, Zilow E, Zoubaa S, Otto HF, et al. Refractory congenital ascites as a manifestation of neonatal sialidosis: clinical, biochemical and morphological studies in a newborn Syrian male infant. Am J Perinatol. 1999;16(3):133–41.

    CAS  PubMed  Google Scholar 

  117. Al-Shoumer KA, Vasanthy BA, Makhlouf HA, Al-Zaid MM. Leptin levels in Arabs with primary hyperthyroidism. Ann Saudi Med. 2000;20(2):113–8.

    CAS  PubMed  Google Scholar 

  118. Nanda A, Dvorak R, Al-Saeed K, Al-Sabah H, Alsaleh QA. Spectrum of autoimmune bullous diseases in Kuwait. Int J Dermatol. 2004;43(12):876–81.

    PubMed  Google Scholar 

  119. Aldahmesh MA, Khan AO, Hijazi H, Alkuraya FS. Homozygous truncation of SIX6 causes complex microphthalmia in humans. Clin Genet. 2012;84(2):198–9.

    PubMed  Google Scholar 

  120. Wyszynski DF, Albacha-Hejazi H, Aldirani M, Hammod M, Shkair H, Karam A, et al. A genome-wide scan for loci predisposing to non-syndromic cleft lip with or without cleft palate in two large Syrian families. Am J Med Genet A. 2003;123a(2):140–7.

    PubMed  Google Scholar 

  121. Symoens S, Barnes Aileen M, Gistelinck C, Malfait F, Guillemyn B, Steyaert W, et al. Genetic defects in TAPT1 disrupt ciliogenesis and cause a complex lethal osteochondrodysplasia. Am J Hum Genet. 2015;97(4):521–34.

    CAS  PubMed  PubMed Central  Google Scholar 

  122. Souraty N, Noun P, Djambas-Khayat C, Chouery E, Pangrazio A, Villa A, et al. Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis. Eur J Med Genet. 2007;50(3):188–99.

    PubMed  Google Scholar 

  123. Gunal I, Taymaz A, Karatosun V, Toylu A, Degirmenci B. Mixed sclerosing dysplasia of the bone associated with ovarian and skin problems. Clin Orthop Relat Res. 2005;436:270–6.

    Google Scholar 

  124. Kljuic A, Gilead L, Martinez-Mir A, Frank J, Christiano AM, Zlotogorski A. A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma. Exp Dermatol. 2003;12(4):523–7.

    CAS  PubMed  Google Scholar 

  125. Weedon MN, Cebola I, Patch A-M, Flanagan SE, De Franco E, Caswell R, et al. Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nat Genet. 2013;46:61.

    PubMed  PubMed Central  Google Scholar 

  126. Saleh MA. Pemphigus in the Arab world. J Dermatol. 2015;42(1):27–30.

    PubMed  Google Scholar 

  127. Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, et al. A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. Am J Hum Genet. 2014;95(5):602–10.

    CAS  PubMed  PubMed Central  Google Scholar 

  128. Murad H, Dabboul A, Moassas F, Alasmar D, Al-Achkar W. Mutation spectrum of phenylketonuria in Syrian population: genotype-phenotype correlation. Gene. 2013;528(2):241–7.

    CAS  PubMed  Google Scholar 

  129. Tarakji B, Umair A, Altamimi MA, Azzeghaiby SN, Mahmoud AS, Darwish S, et al. P27 expression in pleomorphic salivary gland adenoma. Contemp Oncol (Poznan, Poland). 2015;19(1):28–31.

    Google Scholar 

  130. Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, et al. Autosomal-recessive mutations in the tRNA splicing endonuclease subunit TSEN15 cause pontocerebellar hypoplasia and progressive microcephaly. Am J Hum Genet. 2016;99(1):228–35.

    CAS  PubMed  PubMed Central  Google Scholar 

  131. Ghafoor M, Schuyten R, Bener A. Epidemiology of prostate cancer in United Arab Emirates. Med J Malays. 2003;58(5):712–6.

    CAS  Google Scholar 

  132. Tageldin MA, Nafti S, Khan JA, Nejjari C, Beji M, Mahboub B, et al. Distribution of COPD-related symptoms in the Middle East and North Africa: results of the BREATHE study. Respir Med. 2012;106(Suppl 2):S25–32.

    PubMed  Google Scholar 

  133. Bandah-Rozenfeld D, Mizrahi-Meissonnier L, Farhy C, Obolensky A, Chowers I, Pe'er J, et al. Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa. Am J Hum Genet. 2010;87(3):382–91.

    CAS  PubMed  PubMed Central  Google Scholar 

  134. Ahmad NN, Melo MB, Singh AD, Donoso LA, Shields JA. A possible hot spot in exon 21 of the retinoblastoma gene predisposing to a low penetrant retinoblastoma phenotype? Ophthalmic Genet. 1999;20(4):225–31.

    CAS  PubMed  Google Scholar 

  135. Mourad J, Monem F. HLA-DRB1 allele association with rheumatoid arthritis susceptibility and severity in Syria. Revista brasileira de reumatologia. 2013;53(1):47–56.

    PubMed  Google Scholar 

  136. Douri T, Chawaf AZ, Alrefaee BA. Cicatricial alopecia due to sarcoidosis. Dermatol Online J. 2003;9(1):16.

    PubMed  Google Scholar 

  137. Lajin B, Alhaj Sakur A, Michati R, Alachkar A. Association between MTHFR C677T and A1298C, and MTRR A66G polymorphisms and susceptibility to schizophrenia in a Syrian study cohort. Asian J Psychiatry. 2012;5(2):144–9.

    Google Scholar 

  138. Hamamy HA, Al-Allawi NA. Epidemiological profile of common haemoglobinopathies in Arab countries. J Community Genet. 2013;4(2):147–67.

    PubMed  Google Scholar 

  139. Alio AB, Bird LM, McClellan SD, Cunningham BB. Sjogren-Larsson syndrome: a case report and literature review. Cutis. 2006;78(1):61–5.

    PubMed  Google Scholar 

  140. Nezarati MM, Loeffler J, Yoon G, MacLaren L, Fung E, Snyder F, et al. Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome. Am J Med Genet. 2002;110(2):103–8.

    PubMed  Google Scholar 

  141. Al Rashed AA, Al-Jarallah AA, Salih MA, Kolawole T, Al-Jarallah J. Sotos syndrome (cerebral gigantism): a clinical and radiological study of 14 cases from Saudi Arabia. Ann Trop Paediatr. 1999;19(2):197–203.

    CAS  PubMed  Google Scholar 

  142. Goizet C, Boukhris A, Maltete D, Guyant-Maréchal L, Truchetto J, Mundwiller E, et al. SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. Neurology. 2009;73(14):1111.

    CAS  PubMed  Google Scholar 

  143. Abou Jamra R, Philippe O, Raas-Rothschild A, Eck SH, Graf E, Buchert R, et al. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet. 2011;88(6):788–95.

    CAS  PubMed  PubMed Central  Google Scholar 

  144. Majewski E, Goecke T, Meinecke P. Ectrodactyly and absence (hypoplasia) of the tibia: are there dominant and recessive types? Am J Med Genet. 1996;63(1):185–9.

    CAS  PubMed  Google Scholar 

  145. Harfouch EI, Al-Cheikh SA. HLA-B27 and its subtypes in Syrian patients with ankylosing spondylitis. Saudi Med J. 2011;32(4):364–8.

    PubMed  Google Scholar 

  146. Farag TI, Al-Awadi SA, Hunt MC, Satyanath S, Zahran M, Usha R, et al. A family with spondyloepimetaphyseal dwarfism: a 'new' dysplasia or Kniest disease with autosomal recessive inheritance? J Med Genet. 1987;24(10):597–601.

    CAS  PubMed  PubMed Central  Google Scholar 

  147. Uthman IW, Muffarij AA, Mudawar WA, Nasr FW, Masri AF. Lupus nephritis in Lebanon. Lupus. 2001;10(5):378–81.

    CAS  PubMed  Google Scholar 

  148. Peleg L, Meltzer F, Karpati M, Goldman B. GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A. Biochem Mol Med. 1995;54:126–32.

    CAS  PubMed  Google Scholar 

  149. Zeng W-Q, Al-Yamani E, Acierno JS, Slaugenhaupt S, Gillis T, MacDonald ME, et al. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Human Genet. 2005;77(1):16–26.

    CAS  Google Scholar 

  150. Ho LL, Ayling J, Prosser I, Kronenberg H, Iland H, Joshua D. Missense C168T in the Wiskott-Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. Br J Haematol. 2001;112(1):76–80.

    CAS  PubMed  Google Scholar 

  151. Irani‐Hakime N, Tamim H, Kreidy R, Almawi WY. The prevalence of factor V R506Q mutation-Leiden among apparently healthy Lebanese. Am J Hematol. 2000;65:45–9.

    PubMed  Google Scholar 

  152. Mohanty D, Das KC, Al-Hussain H, Naglen P, Eklof B, Marouf R, et al. Thrombophilia in ethnic Arabs in Kuwait. Ann Hematol. 1996;73(6):283–90.

    CAS  PubMed  Google Scholar 

  153. Dashti AA, Jadaon MM, Lewis HL. Factor V Leiden mutation in Arabs in Kuwait by real-time PCR: different values for different Arabs. J Hum Genet. 2010;55(4):232–5.

    CAS  PubMed  Google Scholar 

  154. Al-Qattan MM, Shamseldin HE, Alkuraya FS. The WNT7A G204S mutation is associated with both Al-Awadi-Raas Rothschild syndrome and Fuhrmann syndrome phenotypes. Gene. 2013;516(1):168–70.

    CAS  PubMed  Google Scholar 

  155. Taban M, Memoracion-Peralta DS, Wang H, Al-Gazali LI, Traboulsi EI. Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features. J AAPOS. 2007;11(5):431–7.

    PubMed  Google Scholar 

  156. Haddad NM, Ente D, Chouery E, Jalkh N, Mehawej C, Khoueir Z, et al. Molecular study of three lebanese and syrian patients with Waardenburg syndrome and report of novel mutations in the EDNRB and MITF genes. Mol Syndromol. 2011;1(4):169–75.

    CAS  PubMed  PubMed Central  Google Scholar 

  157. Oshima J, Yu CE, Piussan C, Klein G, Jabkowski J, Balci S, et al. Homozygous and compound heterozygous mutations at the Werner syndrome locus. Hum Mol Genet. 1996;5(12):1909–13.

    CAS  PubMed  Google Scholar 

  158. El-Shanti H, Lidral AC, Jarrah N, Druhan L, Ajlouni K. Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. Am J Hum Genet. 2000;66(4):1229–366.

    CAS  PubMed  PubMed Central  Google Scholar 

  159. Vergopoulos A, Bajari T, Jouma M, Knoblauch H, Aydin A, Bahring S, et al. A xanthomatosis-susceptibility gene may exist in a Syrian family with familial hypercholesterolemia. Eur J Hum Genet. 1997;5(5):315–23.

    CAS  PubMed  Google Scholar 

  160. Al-Gazali L, Hamamy H, Al-Arrayad S. Genetic disorders in the Arab world. BMJ. 2006;333:831–4.

    PubMed  PubMed Central  Google Scholar 

  161. United Nations High Commissioner for Refugees. Syria conflict at 5 years: the biggest refugee and displacement crisis of our time demands a huge surge in solidarity 2016. https://www.unhcr.org/news/press/2016/3/56e6e3249/syria-conflict-5-years-biggest-refugee-displacement-crisis-time-demands.html (2016)

  162. Hunter P. The refugee crisis challenges national health care systems: countries accepting large numbers of refugees are struggling to meet their health care needs, which range from infectious to chronic diseases to mental illnesses. EMBO Rep. 2016;17(4):492–5.

    CAS  PubMed  PubMed Central  Google Scholar 

  163. Centers for Disease Control and Prevention. Syrian Refugee Health Profile. 2016.

  164. World Health Organization. Migration and health: key issues. World Health Organization; 2018.

  165. Valdez R, Grosse SD, Khoury MJ. The need for a next-generation public health response to rare diseases. Genet Med. 2016;19(5):489–90.

    PubMed  PubMed Central  Google Scholar 

  166. Nakouzi G, Kreidieh K, Yazbek S. A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services. J Commun Genet. 2015;6(1):83–105.

    Google Scholar 

  167. AlSalloum A, El Mouzan MI, AlHerbish A, AlOmer A, Qurashi M. Prevalence of selected congenital anomalies in Saudi children: a community-based study. Ann Saudi Med. 2015;35(2):107–10.

    PubMed  Google Scholar 

  168. McCandless SE, Brunger JW, Cassidy SB. The burden of genetic disease on inpatient care in a children's hospital. Am J Hum Genet. 2004;74(1):121–7.

    CAS  PubMed  Google Scholar 

  169. Tadmouri GO. Genetic disorders in Arab Populations: A 2008 Update. In: Tadmouri GO TAAM, Al Khaja N, editor. Genetic Disorders in the Arab World: Oman Dubai; 2008 2008.

  170. Hamamy H, Al-Hait S, Alwan A, Ajlouni K. Jordan: communities and community genetics. Commun Genet. 2007;10(1):52–60.

    Google Scholar 

  171. Erdem Y, Teksen F. Genetic screening services provided in Turkey. J Genet Couns. 2013;22(6):858–64.

    PubMed  Google Scholar 

  172. Resta R, Biesecker BB, Bennett RL, Blum S, Estabrooks Hahn S, Strecker MN, et al. A new definition of genetic counseling: National Society of Genetic Counselors’ Task Force Report. J Genet Couns. 2006;15(2):77–83.

    PubMed  Google Scholar 

  173. Sirdah MM. Consanguinity profile in the Gaza Strip of Palestine: large-scale community-based study. Eur J Med Genet. 2014;57(2–3):90–4.

    PubMed  Google Scholar 

  174. van den Berg MM, Madi HH, Khader A, Hababeh M, Zeidan W, Wesley H, et al. Increasing neonatal mortality among palestine refugees in the Gaza strip. PLoS ONE. 2015;10(8):e0135092.

    PubMed  PubMed Central  Google Scholar 

  175. Romdhane L, Kefi R, Azaiez H, Ben Halim N, Dellagi K, Abdelhak S. Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East. Orphanet J Rare Dis. 2012;7:52.

    PubMed  PubMed Central  Google Scholar 

  176. Al-Owain M, Al-Zaidan H, Al-Hassnan Z. Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions. Am J Med Genet A. 2012;158A(10):2629–40.

    PubMed  Google Scholar 

  177. Delague V, Chouery E, Corbani S, Ghanem I, Aamar S, Fischer J, et al. Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect. Am J Med Genet A. 2005;138A(2):118–26.

    PubMed  Google Scholar 

  178. Li CK. New trend in the epidemiology of thalassaemia. Best Pract Res Clin Obstet Gynaecol. 2017;39:16–26.

    PubMed  Google Scholar 

  179. Kagawa-Singer M, Kassim-Lakha S. A strategy to reduce cross-cultural miscommunication and increase the likelihood of improving health outcomes. Acad Med. 2003;78(6):577–87.

    PubMed  Google Scholar 

  180. Bhogal AK. Prenatal genetic counseling in cross-cultural medicine. Canad Fam Phys (Le Médecin de famille canadien). 2010;56(10):993–9.

    Google Scholar 

  181. Heptinstall T. Assylum Seeker: a health professional perspective. Nurs Stand. 2004;18(25):44.

    PubMed  Google Scholar 

  182. Weir KEA, Wilson SJ, Gorman DR. The Syrian Vulnerable Person Resettlement Programme: evaluation of Edinburgh's reception arrangements. J Public Health (Oxf). 2017;40(3):451–60.

    Google Scholar 

  183. McAllister M, Davies L, Payne K, Nicholls S, Donnai D, MacLeod R. The emotional effects of genetic diseases: implications for clinical genetics. Am J Med Genet A. 2007;143A(22):2651–61.

    PubMed  Google Scholar 

  184. Understanding Genetics: a New England Guide for Patients and Health Professionals. Genetic Alliance Monographs and Guides. Washington (DC) 2010.

Download references

Funding

Not applicable.

Author information

Authors and Affiliations

  1. Faculty of Medicine, American University of Beirut, Beirut, Lebanon

    Lina Hamad

  2. Office of Faculty Affairs, Faculty of Medicine, American University of Beirut, Beirut, Lebanon

    Khalil Kreidieh

  3. Medical Laboratory Sciences Program, Faculty of Health Sciences, American University of Beirut, Riad El Solh, P.O Box 11-0236, Beirut, 1107 2020, Lebanon

    Mirna Bou Hamdan & Soha Yazbek

  4. Department of Clinical Pathology, Cleveland Clinic Hospital, Cleveland, OH, USA

    Ghunwa Nakouzi

Authors
  1. Lina Hamad
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Khalil Kreidieh
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Mirna Bou Hamdan
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Ghunwa Nakouzi
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Soha Yazbek
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

SY conceived the research idea and methodology, oversaw data collection and analysis and drafted the manuscript. GN conceived the research idea and methodology and critically reviewed and helped draft the final version of the manuscript. KK reviewed and provided critical input into the manuscript. MBH undertook the initial data collection and part of the analysis, while LH reviewed the collected data, undertook the full statistical analyses and had a major contribution to drafting the manuscript and the figures. All authors read and approved the final manuscript.

Corresponding authors

Correspondence to Ghunwa Nakouzi or Soha Yazbek.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Hamad, L., Kreidieh, K., Hamdan, M.B. et al. Mapping the Diverse Genetic Disorders and Rare Diseases Among the Syrian Population: Implications on Refugee Health and Health Services in Host Countries. J Immigrant Minority Health 22, 1347–1367 (2020). https://doi.org/10.1007/s10903-020-00987-7

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10903-020-00987-7

Keywords

Search

Navigation