Evidence map›Paper›PMID 31356216›Full record

ArticleJournal of neuromuscular diseases2019

A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset.

Meredith K Gillespie, Hugh J McMillan, Kristin D Kernohan, Izabella A Pena, Rebecca Meyer-Schuman, Care4Rare Canada Consortium, Anthony Antonellis, Kym M Boycott

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neuromuscular diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
–field-weighted citation impact
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

11 citing papers in PubMed.

  1. Review
  2. Review
  3. [A case of interstitial lung and liver disease caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023
    Article
  4. Article
  5. Article
  6. Review
  7. Four pedigrees with aminoacyl-tRNA synthetase abnormalities.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022
    Article
  8. Review
  9. Review
  10. Review
  11. Alveolar proteinosis of genetic origins.European respiratory review : an official journal of the European Respiratory Society · 2020
    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.

Meredith K GillespieChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
Hugh J McMillanChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
Kristin D KernohanChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
Izabella A PenaChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
Rebecca Meyer-SchumanDepartment of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Care4Rare Canada Consortium
Anthony AntonellisDepartment of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Kym M BoycottChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.

Funding

PREDOCTORAL TRAINING IN GENETICST32GM007544 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI MORAN, JOHN V. · 1985 to 2022
$11.3M
Aminoacyl-tRNA synthetases and human inherited diseaseR01GM118647 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ANTONELLIS, ANTHONY · 2016 to 2019
$1.6M
Defining the Molecular Pathology of Neuropathy-associated Aminoacyl-tRNA Synthetase MutationsF31NS108510 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI SCHUMAN, REBECCA MEYER · 2018 to 2020
$74k
NIGMS NIH HHS R01 GM118647NIGMS NIH HHS T32 GM007544NINDS NIH HHS F31 NS108510
6 · The paper itself

Abstract

Charcot-Marie-Tooth disease is a phenotypically and genetically heterogeneous group of disorders affecting both motor and sensory neurons. Exome sequencing has driven discovery of genes responsible for Charcot-Marie-Tooth disease with more than 70 genes now associated with this neuromuscular disease. The MARS gene was recently reported as the cause of Charcot-Marie-Tooth 2U, a slowly progressive axonal sensorimotor polyneuropathy with adult-onset reported in six patients. We report here a patient with a progressive, early childhood-onset, motor-predominant form of Charcot-Marie-Tooth disease. Exome sequencing identified a novel MARS variant (c.1189G>A; p.Ala397Thr) that was not present in her unaffected mother; her unaffected father was unavailable. Further studies using structural modeling and a yeast humanization assay support pathogenicity of the variant. Our study expands the phenotype of Charcot-Marie-Tooth 2U, while highlighting the utility of functional assays to evaluate variant pathogenicity.

Indexed as

Charcot-Marie-Tooth DiseaseChildFemaleHumansMethionine-tRNA LigaseMutationPhenotypeProtein Structure, TertiaryMARS1 protein, humanMethionine-tRNA LigaseCharcot-Marie-Tooth disease type 2UCMT2Uearly-onset neuropathyexome sequencingMARS

Identifiers

PMID31356216
PMCPMC6889022

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Registered trials

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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.