:: Volume 18, Issue 2 (4-2014) ::
ibj 2014, 18(2): 114-119 Back to browse issues page
Three Novel Mutations in Iranian Patients with Tay-Sachs Disease
Solmaz Jamali , Nasim Eskandari , Omid Aryani , Shadab Salehpour , Talieh Zaman , Behnam Kamalidehghan , Massoud Houshmand *

Background: Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutations in‌ an Iranian population. Methods: In this study, we examined 31 patients for TSD-causing mutations using PCR, followed by restriction enzyme digestion. Results: Molecular genetics analysis of DNA from 23 patients of TSD revealed mutations that has been previously reported, including four-base duplications c.1274_1277dupTATC in exon 11 and IVS2+1G>A, deletion TTAGGCAAGGGC in exon 10 as well as a few novel mutations, including C331G, which altered Gln>Glu in HEXB, A>G, T>C, and p.R510X in exon 14, which predicted a termination codon or nonsense mutation. Conclusion: In conclusion, with the discovery of these novel mutations, the genotypic spectrum of Iranian patients with TSD disease has been extended and could facilitate definition of disease-related mutations.

Keywords: Tay-Sachs disease, β- hexosaminidase A, β- hexosaminidase B
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Type of Study: Short Communication | Subject: Related Fields

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Volume 18, Issue 2 (4-2014) Back to browse issues page