Evidence map›Paper›PMID 26626625›Full record

ArticleAmerican journal of human genetics2015

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.

Clare V Logan, Judith Cossins, Pedro M Rodríguez Cruz, David A Parry, Susan Maxwell, Pilar Martínez-Martínez, Joey Riepsaame, Zakia A Abdelhamed, Alice V R Lake, Maria Moran and 9 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed, 2 pooled it
4.7field-weighted citation impact, top 5% 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

33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 78 citations in OpenAlex.

  1. Pooled it
  2. Congenital myasthenic syndromes.Orphanet journal of rare diseases · 2019
    Pooled it
  3. Review
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  16. [Advances in the diagnosis and treatment of congenital myasthenic syndrome].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2020
    Article
  17. Review
  18. Skeletal muscle: A review of molecular structure and function, in health and disease.Wiley interdisciplinary reviews. Systems biology and medicine · 2020
    Review
  19. Article
  20. 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

19 authors at 7 institutions in 2 countries.

Clare V LoganSection of Ophthalmology & Neurosciences, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds LS9 7TF, UK.
Judith CossinsNeurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK.
Pedro M Rodríguez CruzNeurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK.
David A ParrySection of Genetics, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds LS9 7TF, UK.
Susan MaxwellNeurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK.
Pilar Martínez-MartínezNeuroimmunology Group, Division of Neuroscience, School for Mental Health and Neuroscience, Maastricht University, PO box 616, 6200 MD Maastricht, the Netherlands.
Joey RiepsaameMRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK.
Zakia A AbdelhamedSection of Ophthalmology & Neurosciences, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds LS9 7TF, UK.
Alice V R LakeSection of Ophthalmology & Neurosciences, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds LS9 7TF, UK.
Maria MoranDepartment of Paediatric Neurology, Nottingham City Hospital, Nottingham University Hospitals NHS Trust, Hucknall Road, Nottingham NG5 1PB, UK.
Stephanie RobbDubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, 30 Guilford Street, London WC1N 1EH, UK.
Gabriel ChowDepartment of Paediatric Neurology, Nottingham City Hospital, Nottingham University Hospitals NHS Trust, Hucknall Road, Nottingham NG5 1PB, UK.
Caroline SewryDubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, 30 Guilford Street, London WC1N 1EH, UK.
Philip M HopkinsSection of Translational Anaesthesia and Surgical Sciences, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds LS9 7TF, UK.
Eamonn SheridanSection of Genetics, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds LS9 7TF, UK.
Sandeep JayawantDepartment of Paediatric Neurology, John Radcliffe Hospital, Oxford Radcliffe Hospitals NHS Trust, Oxford OX3 9DU, UK.
Jacqueline PalaceNeurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK; Department of Clinical Neurology, John Radcliffe Hospital, Oxford Radcliffe Hospitals NHS Trust, Oxford OX3 9DU, UK.
Colin A JohnsonSection of Ophthalmology & Neurosciences, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds LS9 7TF, UK. Electronic address: c.johnson@leeds.ac.uk.
David BeesonNeurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK. Electronic address: david.beeson@ndcn.ox.ac.uk.
University of Leeds · GBMRC Weatherall Institute of Molecular Medicine · GBNottingham University Hospitals NHS Trust · GBUniversity College London · GBUniversity of Oxford · GBJohn Radcliffe Hospital · GBMaastricht University · NL

Funding

Medical Research Council MR/K011154/1Medical Research Council MR/M006824/1Wellcome Trust
6 · The paper itself

Abstract

The neuromuscular junction (NMJ) consists of a tripartite synapse with a presynaptic nerve terminal, Schwann cells that ensheathe the terminal bouton, and a highly specialized postsynaptic membrane. Synaptic structural integrity is crucial for efficient signal transmission. Congenital myasthenic syndromes (CMSs) are a heterogeneous group of inherited disorders that result from impaired neuromuscular transmission, caused by mutations in genes encoding proteins that are involved in synaptic transmission and in forming and maintaining the structural integrity of NMJs. To identify further causes of CMSs, we performed whole-exome sequencing (WES) in families without an identified mutation in known CMS-associated genes. In two families affected by a previously undefined CMS, we identified homozygous loss-of-function mutations in COL13A1, which encodes the alpha chain of an atypical non-fibrillar collagen with a single transmembrane domain. COL13A1 localized to the human muscle motor endplate. Using CRISPR-Cas9 genome editing, modeling of the COL13A1 c.1171delG (p.Leu392Sfs(∗)71) frameshift mutation in the C2C12 cell line reduced acetylcholine receptor (AChR) clustering during myotube differentiation. This highlights the crucial role of collagen XIII in the formation and maintenance of the NMJ. Our results therefore delineate a myasthenic disorder that is caused by loss-of-function mutations in COL13A1, encoding a protein involved in organization of the NMJ, and emphasize the importance of appropriate symptomatic treatment for these individuals.

Indexed as

MutationAdultAnimalsCell LineChild, PreschoolClustered Regularly Interspaced Short Palindromic RepeatsCollagen Type XIIIEndonucleasesExomeFemaleGene ExpressionHigh-Throughput Nucleotide SequencingHomozygoteHumansMaleMiceCollagen Type XIIIEndonucleasesReceptors, Cholinergic

Identifiers

PMID26626625
PMCPMC4678414
OpenAlexW2176715212

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.