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.
Jamali S., Eskandari N., Aryani O., Salehpour S., Zaman T., Kamalidehghan B., Houshmand M. (2014). 'Three Novel Mutations in Iranian Patients with Tay-Sachs Disease', Iranian Biomedical Journal, 18(2), pp. 114-119. doi: 10.6091/ibj.11372.2013
CHICAGO
S. Jamali, N. Eskandari, O. Aryani, S. Salehpour, T. Zaman, B. Kamalidehghan & M. Houshmand, "Three Novel Mutations in Iranian Patients with Tay-Sachs Disease," Iranian Biomedical Journal, 18 2 (2014): 114-119, doi: 10.6091/ibj.11372.2013
VANCOUVER
Jamali S., Eskandari N., Aryani O., Salehpour S., Zaman T., Kamalidehghan B., Houshmand M. Three Novel Mutations in Iranian Patients with Tay-Sachs Disease. Iranian Biomedical Journal. 2014;18(2):114-119. doi: 10.6091/ibj.11372.2013
Iranian Biomedical Journal