2021 Aug;12(5):289-293.
 doi: 10.1159/000515696. Epub 2021 Jun 17.

Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the ATM Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family



  • 1Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, Peru.
  • 2Equipo funcional de Genética y Biología Molecular, Instituto Nacional de Enfermedades Neoplásicas, Lima, Peru.
  • 3Facultad de Medicina, Universidad Peruana Cayetano Heredia, Lima, Peru.
  • 4Center for Global Health, Universidad Peruana Cayetano Heredia, Lima, Peru.
  • 5IGENOMICA, Instituto de Investigación Genómica, Lima, Peru.
  • 6School of Medicine, Universidad Peruana de Ciencias Aplicadas, Lima, Peru.
  • 7Fogarty Interdisciplinary Cerebrovascular Diseases Training Program in South America, Lima, Peru.
  • 8Fogarty Northern Pacific Global Health Fellows Program, Seattle, Washington, USA.
  • PMID: 34602955
  • PMCID: PMC8436714 (available on )
  • DOI: 10.1159/000515696


Pathogenic and likely pathogenic variants in the ATM gene are associated both with Ataxia-telangiectasia disease or ATM syndrome and an increased cancer risk for heterozygous carriers. We identified a novel compound heterozygous mutation c.3955_3958dup (p.Asp1320delinsValTer) and c.5825C>T (p.Ala1942Val) in the ATM gene in a Peruvian patient with progressive ataxia combined with other movement disorders, mild conjunctival telangiectasia and increased alpha-fetoprotein, without history of recurrent infection or immunodeficiency. We also determined the carrier status of the family members, and we were able to detect gastric and breast cancer at an early stage during the cancer risk assessment in the mother (c.3955_3958dup). Here, we describe clinical evidence for the novel compound heterozygous mutation and c.3955_3958dup not previously reported.

Keywords: ATM; Ataxia-telangiectasia; c.3955_3958dup; c.5825C>T; rs1591646379; rs730881394.