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Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

Kopajtich, Robert ; Murayama, Kei ; Janecke, Andreas R. ; Haack, Tobias B. ; Breuer, Maximilian ; Knisely, A.S. ; Harting, Inga ; Ohashi, Toya ; Okazaki, Yasushi ; Watanabe, Daisaku ; Tokuzawa, Yoshimi ; Kotzaeridou, Urania ; Kölker, Stefan ; Sauer, Sven ; Carl, Matthias ; Straub, Simon ; Entenmann, Andreas ; Gizewski, Elke ; Feichtinger, René G. ; Mayr, Johannes A. ; Lackner, Karoline ; Strom, Tim M. ; Meitinger, Thomas ; Müller, Thomas ; Ohtake, Akira ; Hoffmann, Georg F. ; Prokisch, Holger ; Staufner, Christian

American journal of human genetics, 2016-08, Vol.99 (2), p.414-422 [Periódico revisado por pares]

United States: Elsevier Inc

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Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy
Autor: Kopajtich, Robert ; Murayama, Kei ; Janecke, Andreas R. ; Haack, Tobias B. ; Breuer, Maximilian ; Knisely, A.S. ; Harting, Inga ; Ohashi, Toya ; Okazaki, Yasushi ; Watanabe, Daisaku ; Tokuzawa, Yoshimi ; Kotzaeridou, Urania ; Kölker, Stefan ; Sauer, Sven ; Carl, Matthias ; Straub, Simon ; Entenmann, Andreas ; Gizewski, Elke ; Feichtinger, René G. ; Mayr, Johannes A. ; Lackner, Karoline ; Strom, Tim M. ; Meitinger, Thomas ; Müller, Thomas ; Ohtake, Akira ; Hoffmann, Georg F. ; Prokisch, Holger ; Staufner, Christian
Assuntos: Adolescent ; Alleles ; Animals ; Child ; Child, Preschool ; Dietary Supplements ; Fatty Liver - genetics ; Female ; Fetal Growth Retardation - genetics ; Fibrosis - genetics ; Genetic disorders ; Humans ; Infant ; Infant, Newborn ; Intellectual disabilities ; Intellectual Disability - genetics ; Isoleucine-tRNA Ligase - deficiency ; Isoleucine-tRNA Ligase - genetics ; Liver Diseases - congenital ; Liver Diseases - genetics ; Liver Failure - genetics ; Male ; Muscle Hypotonia - congenital ; Muscle Hypotonia - genetics ; Muscular system ; Mutation ; Ribonucleic acid ; RNA ; Syndrome ; Zebrafish - genetics ; Zinc - administration & dosage ; Zinc - deficiency ; Zinc - therapeutic use
É parte de: American journal of human genetics, 2016-08, Vol.99 (2), p.414-422
Notas: ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
These authors contributed equally to this work
Descrição: tRNA synthetase deficiencies are a growing group of genetic diseases associated with tissue-specific, mostly neurological, phenotypes. In cattle, cytosolic isoleucyl-tRNA synthetase (IARS) missense mutations cause hereditary weak calf syndrome. Exome sequencing in three unrelated individuals with severe prenatal-onset growth retardation, intellectual disability, and muscular hypotonia revealed biallelic mutations in IARS. Studies in yeast confirmed the pathogenicity of identified mutations. Two of the individuals had infantile hepatopathy with fibrosis and steatosis, leading in one to liver failure in the course of infections. Zinc deficiency was present in all affected individuals and supplementation with zinc showed a beneficial effect on growth in one.
Editor: United States: Elsevier Inc
Idioma: Inglês

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Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

United States: Elsevier Inc

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