Novel Pathogenic ATM Mutation with Ataxia-Telangiectasia in a Chinese Family

Ataxia-Telangiectasia (A-T) is a rare, autosomal recessive disorder characterized Q6by progressive cerebellar ataxia, oculocutaneous telangiectasia,immunodeficiency, and increased cancer risk. Mutations in the ATM gene,which is essential for DNA damage repair, underlie this condition. This studyreports a novel homozygous frameshift mutation (ATM_ex20 c.3062delT,p. Val1021fs) in a Chinese family with two affected siblings.