Category: Ataxia
Objective: To describe a Peruvian family carrying variants c.3955_3958dup and c.5825C>T in the ATM gene.
Background: Pathogenic variants at ATM gene are associated both, to Ataxia-telangiectasia disease or ATM syndrome and increased cancer risk for heterozygous carriers.
Method: A comprehensive neurological examination including SARA scoring and extended auxiliary test was completed in the proband. A multicancer Panel with including 83 genes was completed for proband, two unafffected sisters and mother.
Results: The proband, a 16 year old female experienced progressive ataxia combined with other movement disorders, mild conjunctival telangiectasia and increased alpha-fetoprotein. There is no history of recurrent infection or immunodeficiency. Genetic analysis found a compound heterozygous mutation within the ATM gene (c.3955_3958dup and c.5825C>T). Segregation of both variants was confirmed based on genotype of unaffected sisters. The mother, an obligate carrier, developed gastric and breast cancer.
Conclusion: We found clinical evidence for the c.3955_3958dup that was previously described. ACMG and Sherloc guidelines provide enough evidence to propose the c.5825C>T variant as pathogenic.
To cite this abstract in AMA style:
M. Cornejo-Olivas, R. Rodriguez, J. Bazalar-Montoya, E. Sarapura-Castro, M. Torres-Loarte, A.A Rivera-Valdivia, Y. Sullcahuaman-Allende. Reclassification of variant c.5825C>T and clinical evidence of variant c.3955_3958dup in a Peruvian family with ATM syndrome [abstract]. Mov Disord. 2020; 35 (suppl 1). https://www.mdsabstracts.org/abstract/reclassification-of-variant-c-5825ct-and-clinical-evidence-of-variant-c-3955_3958dup-in-a-peruvian-family-with-atm-syndrome/. Accessed June 15, 2025.« Back to MDS Virtual Congress 2020
MDS Abstracts - https://www.mdsabstracts.org/abstract/reclassification-of-variant-c-5825ct-and-clinical-evidence-of-variant-c-3955_3958dup-in-a-peruvian-family-with-atm-syndrome/