Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA SynthetaseIARS2in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome-Reference-Cited by-同舟云学术

Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA SynthetaseIARS2in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome

Published:2014-09 Issue: Volume: Page:n/a-n/a
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Schwartzentruber Jeremy¹,Buhas Daniela²,Majewski Jacek¹³,Sasarman Florin⁴,Papillon-Cavanagh Simon³,Thiffaut Isabelle⁴,Sheldon Katherine M.⁵,Massicotte Christine⁶,Patry Lysanne⁶,Simon Mariella⁵,Zare Amir S.⁵,McKernan Kevin J.⁵,Michaud Jacques⁶⁷,Boles Richard G.⁵⁸,Deal Cheri L.⁶⁹,Desilets Valerie⁶⁷,Shoubridge Eric A.⁴,Samuels Mark E.⁶,

Affiliation:

1. McGill University and Genome Quebec Innovation Centre; Montreal Quebec Canada

2. Department of Medical Genetics; Montreal Children's Hospital; McGill University; Montreal Quebec Canada

3. Department of Human Genetics; McGill University; Montreal Quebec Canada

4. Departments of Neurology and Neurosciences and Human Genetics; McGill University; Montreal Quebec Canada

5. Courtagen Life Sciences; Woburn Massachusetts

6. Centre de Recherche du CHU Ste-Justine; University of Montreal; Montreal Quebec Canada

7. Department of Pediatrics; University of Montreal; Montreal Quebec Canada

8. Division of Medical Genetics; Children's Hospital Los Angeles; and the Department of Pediatrics; University of Southern California; Los Angeles California

9. Endocrinology Service; CHU Ste-Justine; Montreal Quebec Canada

Funder

Genome Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference23 articles.

1. FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project;Beaulieu;Am J Hum Genet,2014

2. Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS;Bonnefond;Biochemistry,2005

3. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing;Calvo;Sci Transl Med,2012

4. Identification of a mutation in LARS as a novel cause of infantile hepatopathy;Casey;Mol Genet Metab,2012

5. Achalasia as the harbinger of a novel mitochondrial disorder in childhood;Chelimsky;J Pediatr Gastroenterol Nutr,2005

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1. IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency;Orphanet Journal of Rare Diseases;2024-08-21

2. Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations;Genes;2024-07-08

3. Identification of 4 Novel Variants in 19 Families with Congenital Cataracts;2024-03-21

4. A Pair of Compound Heterozygous IARS2 Variants Manifesting West Syndrome and Electrolyte Disorders in a Chinese Patient;Global Medical Genetics;2024-01

5. The Canonical and Noncanonical Functions of Aminoacyl-tRNA Synthetases;PROG BIOCHEM BIOPHYS;2023