Research Report

JIMD Reports - Volume 10

Volume 10 of the series JIMD Reports pp 1-9


Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates

  • Fatma A. Al-JasmiAffiliated withDepartment of Pediatrics, United Arab Emirates University Email author 
  • , Nafisa TawfigAffiliated withDepartment of Genetics, Latifa Hospital
  • , Ans BerniahAffiliated withTawam Hospital
  • , Bassam R. AliAffiliated withDepartment of Pathology, United Arab Emirates University
  • , Mahmoud TalebAffiliated withDepartment of Genetics, Latifa Hospital
  • , Jozef L. HertecantAffiliated withTawam Hospital
  • , Fatma BastakiAffiliated withDepartment of Pediatrics, Latifa Hospital
  • , Abdul-Kader SouidAffiliated withDepartment of Pediatrics, United Arab Emirates University

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Lysosomal storage disorders (LSD) are rare entities of recessive inheritance. The presence of a “founder” mutation in isolated communities with a high degree of consanguinity (e.g., tribes in the Middle East North Africa, MENA, region) is expected to lead to unusually high disease prevalence. The primary aim of this study was to estimate the prevalence of LSD and report their mutation spectrum in UAE. Between 1995 and 2010, 119 patients were diagnosed with LSD (65 Emiratis and 54 non-Emiratis). Genotyping was performed in 59 (50 %) patients (39 Emirati from 17 families and 20 non-Emiratis from 17 families). The prevalence of LSD in Emiratis was 26.9/100,000 live births. Sphingolipidoses were relatively common (9.8/100,000), with GM1-gangliosidosis being the most prevalent (4.7/100,000). Of the Mucopolysaccharidoses VI, IVA and IIIB were the predominant subtypes (5.5/100,000). Compared to Western countries, the prevalence of fucosidosis, Batten disease, and α-mannosidosis was 40-, sevenfold, and fourfold higher in UAE, respectively. The prevalence of Pompe disease (2.7/100,000) was similar to The Netherlands, but only the infantile subtype was found in UAE. Sixteen distinct LSD mutations were identified in 39 Emirati patients. Eight (50 %) mutations were reported only in Emirati, of which three were novel [c.1694G>T in the NAGLU gene, c.1336 C>T in the GLB1 gene, and homozygous deletions in the CLN3 gene]. Twenty-seven (42 %) patients were clustered in five of the 70 Emirati tribes. These findings highlight the need for tribal-based premarital testing and genetic counseling.