Whole exome sequencing reveals the first c.7456C>T p.Arg2486X mutation in ATM gene in Iranian population

Abstract

Mutations in Ataxia-Telangiectasia Mutated (ATM) gene are prominently responsible for the condition. ATM gene encodes a serine/threonine protein kinase, a crucial component in DNA repair systems. Whole exome sequencing was performed on a nine year old male subject with clinical features of A-T. Alpha fetoprotein and immunoglobulins levels in the serum sample were also measured by biochemical testing. Sequencing test revealed c.7456C>T (p.Arg2486X) mutation in exon 50 of ATM gene in this patient. This mutation was previously described as a missense pathogenic variant that could lead to truncation or lack of protein. Copyright © 2022, Health Biotechnology and Biopharma. All rights reserved