ArticleIranian biomedical journal2014
Three novel mutations in Iranian patients with Tay-Sachs disease.
Article in Iranian biomedical journal, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 10 citations in OpenAlex.
- Spectrum of Genetic Mutations Among Iranian Patients with Gangliosidosis.Biochemical genetics · 2026Article
- Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.Orphanet journal of rare diseases · 2023Article
- Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.Journal of molecular neuroscience : MN · 2022Article
- Tay-Sachs disease: a novel mutation from India.BMJ case reports · 2018Article
- Expanding the spectrum ofMolecular genetics and metabolism reports · 2014Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTay-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.
methodsIn this study, we examined 31 patients for TSD-causing mutations using PCR, followed by restriction enzyme digestion.
resultsMolecular 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.
conclusionIn 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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