Three novel mutations in Iranian patients with Tay-Sachs disease

Jamali S 1 , Eskandari N 2 , Aryani O 2 , Salehpour S 3 , Zaman T 4 , Kamalidehghan B 5 Show all authors , Houshmand M 6

Affiliations 

  • 1 Dept. of Genetics, Islamic Azad University, Ahar, Iran
  • 2 Dept. of Genetics, Special Medical Center, Tehran, Iran
  • 3 Dept. of Pediatrics, Mofid Children's Hospital, Shaheed Beheshti University of Medical Sciences, Tehran, Iran
  • 4 Dept. of Pediatric Metabolic Disorders, Tehran University of Medical Sciences, Tehran, Iran
  • 5 Dept. of Pharmacy, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia
  • 6 National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran
Iran Biomed J, 2014;18(2):114-9.
PMID: 24518553

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.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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