Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family.

ABSTRACT: Ataxia-Telangiectasia (A-T) is a rare, autosomal recessive disorder characterized by 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 study reports a novel homozygous frameshift mutation (ATM_ex20 c.3062delT, p. Val1021fs) in a Chinese family with two affected siblings. The mutation, located in exon 20, has not been previously documented, expanding the spectrum of ATM mutations. The proband and her older sister presented with classic A-T symptoms, including gait instability and conjunctival telangiectasia. Both siblings presented with immunodeficiency, characterized by low immunoglobulin A (IgA) levels, slightly elevated IgM levels, an

SUBMITTER: Zhou Q 

PROVIDER: S-EPMC11638744 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature