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

Richard S. Rodriguez, Mario Cornejo-Olivas, Jeny Bazalar-Montoya, Elison Sarapura-Castro, Mariela Torres-Loarte, Andrea Rivera-Valdivia, Yasser Sullcahuaman-Allende

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)289-293
Number of pages5
JournalMolecular Syndromology
Volume12
Issue number5
DOIs
StatePublished - 1 Aug 2021
Externally publishedYes

Keywords

  • ATM
  • Ataxia-telangiectasia
  • c.3955_3958dup
  • c.5825C>T
  • rs1591646379
  • rs730881394

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