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Next-Generation Sequencing Reveals a Novel Pathogenic Variant in the Atm Gene Publisher Pubmed



Pourahmadiyan A1 ; Alipour P1 ; Golchin N2 ; Tabatabaiefar MA3, 4
Authors
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Authors Affiliations
  1. 1. Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran
  2. 2. Ahvaz Noor Medical Genetics Laboratory, Ahvaz, Iran
  3. 3. Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  4. 4. Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran

Source: International Journal of Neuroscience Published:2022


Abstract

Introduction: Ataxia telangiectasia (A-T) is a rare autosomal recessive, multisystemic disease. Patients with the A-T syndrome present a broad spectrum of disease phenotypes. The ATM (ataxia telangiectasia mutated) gene, the only causative gene for A-T. Method: A patient of Persian origin presenting with typical A-T was referred to our genetics centre for specialized genetic counselling and testing. Targeted next-generation sequencing (NGS) was applied. Sanger sequencing was used to confirm the candidate variant. Modelling was performed using the SWISS-MODEL server. Results: A homozygous stop-gain variant c.829G > T (p.E277*) was found in the ATM gene. This variant was confirmed by Sanger sequencing and modelling of native structure, and truncated structure was performed. Conclusion: To date, very few pathogenic variants of the ATM gene have been reported from the Iranian population. The finding has implications in molecular diagnostic for A-T in Iran. © 2021 Informa UK Limited, trading as Taylor & Francis Group.
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