Evidence map›Paper›PMID 35332613›Full record

ArticleHuman mutation2022

Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.

Alayne P Meyer, Megan E Forrest, Stefan Nicolau, Wojciech Wiszniewski, Mary Pat Bland, Chang-Yong Tsao, Anthony Antonellis, Nicolas J Abreu

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

Article in Human mutation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.7field-weighted citation impact, top 38% 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

5 citing papers in PubMed, 7 citations in OpenAlex.

  1. Review
  2. Observational
  3. Genetic characterization of intramuscular myxomas.Pathology oncology research : POR · 2024
    Article
  4. Review
  5. Review
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 3 institutions in 1 country.

Alayne P MeyerDivision of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.ORCID 0000-0003-3072-0212
Megan E ForrestDepartment of Human Genetics, University of Michigan School of Medicine, Ann Arbor, Michigan, USA.
Stefan NicolauThe Center for Gene Therapy, Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, Ohio, USA.
Wojciech WiszniewskiDepartment of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA.
Mary Pat BlandDepartment of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA.
Chang-Yong TsaoDepartment of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.
Anthony AntonellisDepartment of Human Genetics, University of Michigan School of Medicine, Ann Arbor, Michigan, USA.ORCID 0000-0002-5820-3156
Nicolas J AbreuDepartment of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.
Nationwide Children's Hospital · USOregon Health & Science University · USUniversity of Michigan · US

Funding

TRAINING IN CLINICAL AND BASIC NEUROSCIENCET32NS007222 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Henry L Paulson · 1985 to 2026
$8.0M
Defining the Role of Aminoacyl-tRNA Synthetases in Human Health and DiseaseR35GM136441 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Anthony Antonellis · 2020 to 2026
$2.8M
NIGMS NIH HHS R35 GM136441NINDS NIH HHS T32 NS007222
6 · The paper itself

Abstract

Heterozygosity for missense variants and small in-frame deletions in GARS1 has been reported in patients with a range of genetic neuropathies including Charcot-Marie-Tooth disease type 2D (CMT2D), distal hereditary motor neuropathy type V (dHMN-V), and infantile spinal muscular atrophy (iSMA). We identified two unrelated patients who are each heterozygous for a previously unreported missense variant modifying amino-acid position 336 in the catalytic domain of GARS1. One patient was a 20-year-old woman with iSMA, and the second was a 41-year-old man with CMT2D. Functional studies using yeast complementation assays support a loss-of-function effect for both variants; however, this did not reveal variable effects that might explain the phenotypic differences. These cases expand the mutational spectrum of GARS1-related disorders and demonstrate phenotypic variability based on the specific substitution at a single residue.

Indexed as

Charcot-Marie-Tooth DiseaseGlycine-tRNA LigaseCodonHumansMutationPhenotypeCodonGARS1 protein, humanGlycine-tRNA LigaseCharcot−Marie−Tooth diseasecomplementation assayGARS1missense variantspinal muscular atrophy

Identifiers

PMID35332613
PMCPMC9247498
OpenAlexW4220748796

What OpenQuestion holds

Textmetadata
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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.