Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Neurogenetics - 1 May 2021

Shalash Ali S, Rösler Thomas W, Salama Mohamed, Pendziwiat Manuela, Müller Stefanie H, Hopfner Franziska, Höglinger Günter U, Kuhlenbäumer Gregor

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to alpha-Fetoproteins
Share to Ataxia Telangiectasia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Causality

Share to Exome Sequencing

Share to Mutation, Missense

Share to Pedigree

Share to Point Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 33779842
DOI: 10.1007/s10048-021-00639-4
PMCID: PMC8119284

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia.PMID 33779842Read ↗

Clinical and genetic spectrum of Ataxia Telangiectasia Tunisian patients: Bioinformatic analysis unveil mechanisms of ATM variants pathogenicity.Semantic proximity Read ↗

Clinical Characterization and Mutation Analysis of 13 Iranian Ataxia-Telangiectasia Patients: Introducing Three Novel MutationsSemantic proximity Read ↗

A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis.Semantic proximity Read ↗

A Novel ATM Gene Variant (c.4940T>G; p.Leu1647Arg) in a Child with Ataxia–Telangiectasia: Clinical, Radiologic, and Genetic CorrelationSemantic proximity Read ↗

Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutationsSemantic proximity Read ↗

Ataxia‐telangiectasia: A review of clinical features and molecular pathologySemantic proximity Read ↗

Ataxia-telangiectasia: epidemiology, pathogenesis, clinical phenotype, diagnosis, prognosis and management.Semantic proximity Read ↗

A novel ATM variant in a Colombian family with chorea-ataxia syndrome: implications for an early diagnosisSemantic proximity Read ↗

Exploration of clinical and genetic findings in Ataxia-Telangiectasia (AT) patients from the Indian subcontinent.Semantic proximity Read ↗

[New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case].Semantic proximity Read ↗

Novel genetic variants identification and immune profiling in ataxia telangiectasia patients.Semantic proximity Read ↗

Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.