Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia

Ataxia telangiectasia is a rare autosomal recessive multisystem disorder caused by mutations in the gene of ATM serine/threonine kinase. It is characterized by neurodegeneration, leading to severe ataxia, immunodeficiency, increased cancer susceptibility, and telangiectasia. Here, we discovered a co-segregation of two ATM gene variants with ataxia telangiectasia in an Egyptian family. While one of these variants (NM_000051.4(ATM_i001):p.(Val128*)) has previously been reported as pathogenic, the other one (NM_000051.4(ATM_i001):p.(Val1729Leu)) is regarded as a variant of uncertain significance. Our findings in this family provide additional evidence for causality of the second variant and argue that its status should be changed to pathogenic.

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Published in:
Neurogenetics
Publisher:
Springer Science and Business Media LLC
Publishing place:
Berlin
Heidelberg
Vol.:
22
No.:
2
ISSN:
1364-6745
ISSN:
1364-6753
ISSN:
1364-6745
Pages:
143 - 147
Date Issued:
2021
URN:
urn:nbn:de:gbv:8:3-2025-01670-7
DOI:
10.1007/s10048-021-00639-4
Other identifier (pubmed):
33779842
Language:
English
Type of Resource:
Text
Publisher:
Springer Science and Business Media LLC
Keywords:
Humans; Ataxia Telangiectasia; alpha-Fetoproteins; Pedigree; Causality; Genotype; Phenotype; Mutation, Missense; Point Mutation; Egypt; Female; Male; Exome Sequencing; Mutation; Pathogenicity; Egypt; Ataxia Telangiectasia; Atm Serine/threonine Kinase
Classification:
Published version
DDC subject of DNB:
610 Medical sciences, health
Hosting institution:
Faculties, Faculty of Medicine
Hosting institution:
Affiliated Institutes, University Hospital Schleswig-Holstein (UKSH)

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