Three novel mutations in Iranian patients with Tay-Sachs disease.

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

SUBMITTER: Jamali S 

PROVIDER: S-EPMC3933921 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature