A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever-Reference-Cited by-同舟云学术

A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever

Published:2021-10-04 Issue:12 Volume:42 Page:1576-1583
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Ravel Jean‐Marie¹²^ORCID,Dreumont Natacha²,Mosca Pauline²,Smith Desiree E. C.³,Mendes Marisa I.³,Wiedemann Arnaud²,Coelho David²,Schmitt Emmanuelle⁴,Rivière Jean‐Baptiste⁵⁶⁷,Tran Mau‐Them Frédéric⁵⁶⁷^ORCID,Thevenon Julien⁵⁶⁷,Kuentz Paul⁶⁷^ORCID,Polivka Marc⁸,Fuchs Sabine A.⁹¹⁰¹¹,Kok Gautam⁸,Thauvin‐Robinet Christel⁵⁶⁷,Guéant Jean‐Louis¹²^ORCID,Salomons Gajja S.³,Faivre Laurence⁶⁷,Feillet François¹²

Affiliation:

1. Reference Centre of Inborn Metabolism Diseases Université de Lorraine, CHRU‐Nancy Nancy France

2. NGERE Université de Lorraine, Inserm Nancy France

3. Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC Vrije Universiteit Amsterdam Amsterdam The Netherlands

4. Service de Neuroradiologie CHRU Nancy Nancy France

5. Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares CHU Dijon Bourgogne Dijon France

6. Centre de Génétique, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Compétence Maladies Mitochondriales, FHU TRANSLAD Hôpital d'Enfants, CHU de Dijon France

7. INSERM UMR1231, Equipe Génétique des Anomalies du Développement Université de Bourgogne Dijon France

8. Department of Pathology Hôpital Lariboisière Paris France

9. Department of Metabolic Diseases Wilhelmina Children's Hospital, University Medical Center Utrecht Utrecht The Netherlands

10. Regenerative Medicine Center Utrecht Regenerative Medicine Utrecht Utrecht The Netherlands

11. On behalf of “United for Metabolic Diseases,” Amsterdam the Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24285

Reference43 articles.

1. The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases

2. The metabolic cost of fever

3. Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

4. Acceptor Stem Differences Contribute to Species-Specific Use of Yeast and Human tRNASer

5. NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

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