Open AccessNovel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the <b><i>ATM</i></b> Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family
Author(s) -
Richard S. Rodriguez,
Mario CornejoOlivas,
Jeny BazalarMontoya,
Elison SarapuraCastro,
Mariela Torres-Loarte,
Andrea RiveraValdivia,
Yasser Sullcahuamán-Allende
Publication year - 2021
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000515696
Subject(s) - ataxia telangiectasia , heterozygote advantage , compound heterozygosity , mutation , medicine , gene , cancer , genetics , biology , genotype , dna , dna damage
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.