Prevalence and novel mutations of lysosomal storage disorders in United Arab Emirates: LSD in UAE

JIMD Reports

Volumn 10, Issue , 2013, Pages 1-9

  Al Jasmi, Fatma A ^a   Tawfig, Nafisa ^b   Berniah, Ans ^c   Ali, Bassam R ^a   Taleb, Mahmoud ^b   Hertecant, Jozef L ^c   Bastaki, Fatma ^b   Souid, Abdul Kader ^a  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^b Al Wasl Hospital   (United Arab Emirates)

^c TAWAM HOSPITAL   (United Arab Emirates)

Author keywords

Birth prevalence; Fabry disease; Gauche disease; Lysosomal storage disorder; Pompe disease

Indexed keywords

EID: 84893384165     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2012_182     Document Type: Chapter

References (24)

1. Alfonso P, Rodriguez-Rey JC et al (2004) Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients. Blood Cells Mol Dis 32 (1):218–225
2. Al-Gazali LI, Bener A et al (1997) Consanguineous marriages in the United Arab Emirates. J Biosoc Sci 29(4):491–497
3. Ali BR, Hertecant JL et al (2011) New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population. Saudi Med J 32(4):353–359
4. Al-Jasmi F (2012) A novel mutation in an atypical presentation of the rare infantile Farber disease. Brain Dev 34(6):533–535
5. Bach G, Moskowitz SM et al (1993) Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area. Am J Hum Genet 53(2):330–338
6. Beesley CE, Young EP et al (1998) Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharido-sis type IIIB). J Med Genet 35(11):910–914
7. Ben-Rebeh I, Hertecant J L et al Identification of Mutations Underlying 20 Inborn Errors of Metabolism in the United Arab Emirates Population. Genet Test Mol Biomarkers May;16(5): 366–371, 2012
8. Bunge S, Knigge A et al (1999) Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. J Med Genet 36(1):28–31
9. Dionisi-Vici C, Rizzo C et al (2002) Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J Pediatr 140(3):321–327
10. Eng CM, Desnick RJ (1994) Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. Hum Mutat 3(2):103–111
11. Georgiou T, Drousiotou A et al (2004) Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. Hum Mutat 24(4):352
12. Harmon DL, Gardner-Medwin D et al (1993) Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene. J Med Genet 30(2):123–128
13. Karageorgos L, Harmatz P et al (2004) Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy. Hum Mutat 23(3):229–233
14. Kroos M, Pomponio RJ et al (2008) Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. Hum Mutat 29(6):E13–E26
15. Kudo M, Brem MS et al (2006) Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta-subunits precursor gene. Am J Hum Genet 78(3):451–463
16. Lan MY, Lin SJ et al (2009) A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease. Ann Hematol 88(7):695–697
17. Meikle PJ, Hopwood JJ et al (1999) Prevalence of lysosomal storage disorders. JAMA 281(3):249–254
18. Ozkara HA, Topcu M (2004) Sphingolipidoses in Turkey. Brain Dev 26(6):363–366
19. Pinto R, Caseiro C et al (2004) Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet 12(2):87–92
20. Poorthuis BJ, Wevers RA et al (1999) The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 105(1–2):151–156
21. Poupetova H, Ledvinova J et al (2010) The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. J Inherit Metab Dis 33(4):387–396
22. Raas-Rothschild A, Cormier-Daire V et al (2000) Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC). J Clin Invest 105(5):673–681
23. Weber B, Guo XH et al (1999) Sanfilippo type B syndrome (muco-polysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. Eur J Hum Genet 7(1):34–44
24. Zhang ZX, Wakamatsu N et al (1994) Impact of premature stop codons on mRNA levels in infantile Sandhoff disease. Hum Mol Genet 3(1):139–145