three novel mutations in iranian patients with tay-sachs disease
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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.
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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 m...
full textThree novel mutations in Iranian patients with Tay-Sachs disease.
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Journal title:
iranian biomedical journalجلد ۱۸، شماره ۲، صفحات ۱۱۴-۱۱۹
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