The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

Adolescent Child Child, Preschool Female Humans Male Mutation, Missense Neurodevelopmental Disorders / genetics Phenotype Protein Conformation Tyrosine-tRNA Ligase / chemistry Exome Sequencing
Aminoacyl-tRNA synthetases (ARS1) Functional protein domains Multisystem diseases Neurodevelopmental disorders Novel disease genes Phenotypic heterogeneity

Journal

Journal of molecular medicine (Berlin, Germany)
ISSN: 1432-1440
Titre abrégé: J Mol Med (Berl)
Pays: Germany
ID NLM: 9504370

Informations de publication

Date de publication:
12 2021
Historique:
received: 12 03 2021
accepted: 30 07 2021
revised: 21 07 2021
pubmed: 19 9 2021
medline: 25 2 2022
entrez: 18 9 2021
Statut: ppublish

Résumé

Pathogenic variants in aminoacyl-tRNA synthetases (ARS1) cause a diverse spectrum of autosomal recessive disorders. Tyrosyl tRNA synthetase (TyrRS) is encoded by YARS1 (cytosolic, OMIM*603,623) and is responsible of coupling tyrosine to its specific tRNA. Next to the enzymatic domain, TyrRS has two additional functional domains (N-Terminal TyrRS

Identifiants

DOI: 10.1007/s00109-021-02124-9 PMID: 34536092 PMC: PMC8599376
pubmed: 34536092
doi: 10.1007/s00109-021-02124-9
pii: 10.1007/s00109-021-02124-9
pmc: PMC8599376
doi:

Substances chimiques

Tyrosine-tRNA Ligase EC 6.1.1.1

Types de publication

Journal Article Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

1755-1768

Commentaires et corrections

Type : ErratumIn

Informations de copyright

© 2021. The Author(s).

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Auteurs

Luisa Averdunk (L)

Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Universitätsstraße 1, 40225, Düsseldorf, Germany.
Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf, Germany.

Heinrich Sticht (H)

Division of Bioinformatics, Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

Harald Surowy (H)

Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Universitätsstraße 1, 40225, Düsseldorf, Germany.

Hermann-Josef Lüdecke (HJ)

Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Universitätsstraße 1, 40225, Düsseldorf, Germany.

Margarete Koch-Hogrebe (M)

Children's Hospital Datteln, University Witten Herdecke, Datteln, Germany.

Hessa S Alsaif (HS)

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Kimia Kahrizi (K)

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Hamad Alzaidan (H)

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Bashayer S Alawam (BS)

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Mohamed Tohary (M)

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Cornelia Kraus (C)

Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

Sabine Endele (S)

Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

Erin Wadman (E)

Division of Medical Genetics, Department of Pediatrics, Nemours Alfred I, DuPont Hospital for Children, Wilmington, Delaware, DE, USA.

Julie D Kaplan (JD)

Division of Medical Genetics, Department of Pediatrics, Nemours Alfred I, DuPont Hospital for Children, Wilmington, Delaware, DE, USA.

Stephanie Efthymiou (S)

Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.

Hossein Najmabadi (H)

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

André Reis (A)

Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.

Fowzan S Alkuraya (FS)

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Dagmar Wieczorek (D)

Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Universitätsstraße 1, 40225, Düsseldorf, Germany. dagmar.wieczorek@hhu.de.
ORCID: 0000-0003-2812-6492

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › The recurrent missense mutation p.(Arg367Trp)...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › The recurrent missense mutation p.(Arg367Trp)...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › The recurrent missense mutation p.(Arg367Trp)...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The recurrent missense mutation p.(Arg367Trp)...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › The recurrent missense mutation p.(Arg367Trp)...
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › The recurrent missense mutation p.(Arg367Trp)...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › The recurrent missense mutation p.(Arg367Trp)...
questionsmedicales.fr › Phénomènes chimiques › Phénomènes biochimiques › Conformation moléculaire › Conformation des protéines › The recurrent missense mutation p.(Arg367Trp)...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Ligases › Carbon-oxygen ligases › Amino acyl-tRNA synthetases › Tyrosine-tRNA ligase › The recurrent missense mutation p.(Arg367Trp)...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Séquençage de l'exome › The recurrent missense mutation p.(Arg367Trp)...