Three Novel Mutations in Iranian Patients with Tay-Sachs Disease

Authors

  • Behnam Kamalidehghan
  • Nasim Eskandari
  • Omid Aryani
  • Shadab Salehpour
  • Solmaz Jamali
  • Talieh Zaman
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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Three novel mutations in Iranian patients with Tay-Sachs disease.

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three novel mutations in iranian patients with tay-sachs disease

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Journal title

volume 18  issue 2

pages  114- 119

publication date 2014-04

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