Title

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

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