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1000 Titel
  • Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia
1000 Autor/in
  1. Shalash, Ali |
  2. Rösler, Thomas W. |
  3. Salama, Mohamed |
  4. Pendziwiat, Manuela |
  5. Müller, Stefanie H. |
  6. Hopfner, Franziska |
  7. Höglinger, Günter |
  8. Kuhlenbaeumer, Gregor |
1000 Erscheinungsjahr 2021
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2021-03-29
1000 Erschienen in
1000 Quellenangabe
  • 22(2):143-147
1000 Copyrightjahr
  • 2021
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1007/s10048-021-00639-4 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8119284/ |
1000 Publikationsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • 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.
1000 Sacherschließung
lokal ATM serine/threonine kinase
lokal Female [MeSH]
lokal Egypt
lokal Mutation
lokal Humans [MeSH]
lokal Pathogenicity
lokal Whole Exome Sequencing [MeSH]
lokal Mutation, Missense [MeSH]
lokal Ataxia telangiectasia
lokal Ataxia Telangiectasia/genetics [MeSH]
lokal Pedigree [MeSH]
lokal Male [MeSH]
lokal Egypt [MeSH]
lokal Causality [MeSH]
lokal Genotype [MeSH]
lokal Phenotype [MeSH]
lokal Point Mutation [MeSH]
lokal Short Communication
lokal alpha-Fetoproteins/genetics [MeSH]
1000 Liste der Beteiligten
  1. https://orcid.org/0000-0001-7012-5907|https://frl.publisso.de/adhoc/uri/UsO2c2xlciwgVGhvbWFzIFcu|https://orcid.org/0000-0001-7715-767X|https://frl.publisso.de/adhoc/uri/UGVuZHppd2lhdCwgTWFudWVsYQ==|https://frl.publisso.de/adhoc/uri/TcO8bGxlciwgU3RlZmFuaWUgSC4=|https://orcid.org/0000-0001-6524-0281|https://orcid.org/0000-0001-7587-6187|https://orcid.org/0000-0002-3262-8113
1000 Hinweis
  • DeepGreen-ID: 8ac88b8f551e4b2eac9f6b850f8bc75c ; metadata provieded by: DeepGreen (https://www.oa-deepgreen.de/api/v1/), LIVIVO search scope life sciences (http://z3950.zbmed.de:6210/livivo), Crossref Unified Resource API (https://api.crossref.org/swagger-ui/index.html), to.science.api (https://frl.publisso.de/), ZDB JSON-API (beta) (https://zeitschriftendatenbank.de/api/), lobid - Dateninfrastruktur für Bibliotheken (https://lobid.org/resources/search)
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1000 Erstellt am 2023-04-28T12:54:07.714+0200
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1000 Zuletzt bearbeitet 2023-10-20T18:08:39.195+0200
1000 Objekt bearb. Fri Oct 20 18:08:39 CEST 2023
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