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ORIGINAL RESEARCH article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1491649

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

Provisionally accepted
Qiaomin Zhou Qiaomin Zhou 1Minling Chen Minling Chen 2Enfu Tao Enfu Tao 3*
  • 1 Department of Eugenic Genetics, Wenling Maternal and Child Health Care Hospital, Wenling, China
  • 2 Department of Maternity, Wenling Maternal and Child Health Care Hospital, Wenling, China
  • 3 Department of Neonatology and NICU, Wenling Maternal and Child Health Care Hospital, Wenling, China

The final, formatted version of the article will be published soon.

    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, and elevated alpha-fetoprotein (AFP).Cranial magnetic resonance imaging (MRI) findings revealed cerebellar atrophy and cerebral white matter lesions in both sisters. Interestingly, while both sisters shared the same mutation, their clinical severity differed, highlighting the complexity of genotypephenotype correlations in A-T. The parents and an unaffected sister were heterozygous carriers, consistent with autosomal recessive inheritance. This study underscores the importance of genetic testing in A-T diagnosis and provides new insights into the genetic diversity of ATM-related diseases. Further research is needed to understand the broader implications of this mutation.

    Keywords: ataxia-telangiectasia, ATM gene, Frameshift Mutation, cerebellar atrophy, muscle atrophy, immunodeficiency, Alpha-Fetoprotein

    Received: 06 Sep 2024; Accepted: 28 Oct 2024.

    Copyright: © 2024 Zhou, Chen and Tao. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Enfu Tao, Department of Neonatology and NICU, Wenling Maternal and Child Health Care Hospital, Wenling, China

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