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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. 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. A homozygous stop-gain variant c.829G &gt; 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. 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.

Next-generation sequencing reveals a novel pathogenic variant in the ATM gene