Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia
Funding Number
FOR-2715
Funding Sponsor
Deutscher Akademischer Austauschdienst
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https://doi.org/10.1007/s10048-021-00639-4
Document Type
Research Article
Publication Title
Neurogenetics
Publication Date
5-1-2021
doi
10.1007/s10048-021-00639-4
Abstract
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.
First Page
143
Last Page
147
Recommended Citation
APA Citation
Shalash, A.
Rösler, T.
Salama, M.
Pendziwiat, M.
...
(2021). Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia. Neurogenetics, 22(2), 143–147.
10.1007/s10048-021-00639-4
https://fount.aucegypt.edu/faculty_journal_articles/2774
MLA Citation
Shalash, Ali S., et al.
"Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia." Neurogenetics, vol. 22,no. 2, 2021, pp. 143–147.
https://fount.aucegypt.edu/faculty_journal_articles/2774