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Three novel mutations in Iranian patients with Tay-Sachs disease

Solmaz Jamali¹, Nasim Eskandari², Omid Aryani²

¹Dept. of Genetics, Islamic Azad University, Ahar, Iran.

Iranian Biomedical Journal

|February 13, 2014

Abstract

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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