Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again

Abstract

Ataxia-telangiectasia (A-T) is one of the most frequent recessive ataxias worldwide. The disease results from biallelic pathogenic variants in ATM gene, coding for a high-molecular-weight protein kinase involved in double-strand breaks (DSBs) repair. It is usually characterized by childhood-onset cerebellar ataxia, oculocutaneous telangiectasia and early mortality [1]. Its molecular diagnosis is challenging because of the unusually large sequence of ATM, the extensive allelic heterogeneity with more than 600 reported pathogenic variants[2] and the increasing recognition...