Abstract
Drusun syndrome as a clinical spectrum of glucose 6 phosphatase catalytic subunit 3 (G6PC3) deficiency was first introduced as triad of primary pulmonary hypertension (PPH), atrial septal defect (ASD), and leukopenia in two individuals born of a nonconsanguineous marriage who both died at 18 months of age due to severe respiratory distress (Dursun et al. 2009). No etiology was found until the genetic analysis of the parents revealed the missense heterozygous mutation of G6PC3 gene and homozygous change in the extracted DNA of the available frozen cells of the younger sibling (Banka et al. 2010). Mutation in G6PC3 gene was first described in five children of two families manifested with recurrent infections due to severe congenital neutropenia (SCN) as well as cardiac and urogenital malformations (Boztug et al. 2009). Further cases with similar clinical findings were also identified. This clinical spectrum is now known as SCN4. About 1% to 3% of people with congenital neutropenia were diagnosed with G6PC3 deficiency (Xia et al. 2009; Smith et al. 2012), and around 60 individuals with this condition have been reported. The prevalence of Drusun and SCN4 spectra, however, remains unknown. The true prevalence of G6PC3 deficiency among general population is also unclear.
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References
Banka S, Newman WG (2013) A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations. Orphanet J Rare Dis 8(1):84
Banka S, Newman WG, Özgül RK, Dursun A (2010) Mutations in the G6PC3 gene cause Dursun syndrome. Am J Med Genet A 152(10):2609–2611
Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U, Diestelhorst J et al (2009) A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 360(1):32–43
Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J et al (2012) Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. J Pediatr 160(4):679–683
Dursun A, Özgül RK, Soydas A, Tugrul T, Gurgey A, Celiker A et al (2009) Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement. Clin Dysmorphol 18(1):19–23
Hutton JC, O’Brien RM (2009) Glucose-6-phosphatase catalytic subunit gene family. J Biol Chem 284(43):29241–29245
McDermott DH, De Ravin SS, Jun HS, Liu Q, Priel DAL, Noel P et al (2010) Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. Blood 116(15):2793–2802
Özgül RK, Yücel-Yılmaz D, Dursun A (2014) Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines. J Clin Immunol 34(3):265–266
Smith BN, Evans C, Ali A, Ancliff PJ, Hayee B, Segal AW et al (2012) Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia. Br J Haematol 158(1):146–149
Spoor J, Fard HF, Rezaei N (2019) Congenital neutropenia and primary immunodeficiency diseases. Crit Rev Oncol Hematol 133:149–162
Xia J, Bolyard AA, Rodger E, Stein S, Aprikyan AA, Dale DC et al (2009) Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. Br J Haematol 147(4):535–542
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Amanat, M., Salehi, M., Rezaei, N. (2022). Dursun Syndrome. In: Rezaei, N. (eds) Genetic Syndromes. Springer, Cham. https://doi.org/10.1007/978-3-319-66816-1_38-1
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DOI: https://doi.org/10.1007/978-3-319-66816-1_38-1
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