Evidence map›Paper›PMID 33779842›Full record

ArticleNeurogenetics2021

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

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

Open access · hybridAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurogenetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 2 pooled it
0.2field-weighted citation impact, top 52% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 2 syntheses or guidelines pooled it, 3 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 6 institutions in 3 countries.

Ali S ShalashDepartment of Neurology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.ORCID https://orcid.org/0000-0001-7012-5907
Thomas W RöslerDepartment of Neurology, School of Medicine, Technical University of Munich, Munich, Germany.
Mohamed SalamaInstitute of Global Health and Human Ecology, American University in Cairo (AUC), Cairo, Egypt.ORCID https://orcid.org/0000-0001-7715-767X
Manuela PendziwiatInstitute of Clinical Molecular Biology, University of Kiel, Kiel, Germany.
Stefanie H MüllerInstitute of Health Informatics, UCL, London, UK.
Franziska HopfnerDepartment of Neurology, Hannover Medical School, Hannover, Germany.ORCID https://orcid.org/0000-0001-6524-0281
Günter U HöglingerDepartment of Neurology, School of Medicine, Technical University of Munich, Munich, Germany.ORCID https://orcid.org/0000-0001-7587-6187
Gregor KuhlenbäumerDepartment of Neurology, University of Kiel, Kiel, Germany. Gregor.Kuhlenbaeumer@uksh.de.ORCID https://orcid.org/0000-0002-3262-8113
German Center for Neurodegenerative Diseases · DEAin Shams University · EGHochschule für Angewandte Wissenschaften Kiel · DEMansoura University · EGMedizinische Hochschule Hannover · DEUniversity College London · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Mutation, MissensePoint Mutationalpha-FetoproteinsAtaxia TelangiectasiaCausalityEgyptExome SequencingFemaleGenotypeHumansMalePedigreePhenotypeAFP protein, humanalpha-FetoproteinsAtaxia telangiectasiaATM serine/threonine kinaseEgyptMutationPathogenicity

Identifiers

PMID33779842
PMCPMC8119284
OpenAlexW3146576376

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.