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

ABSTRACT: 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.

SUBMITTER: Kopajtich R

PROVIDER: S-EPMC4974065 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature

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

Kopajtich Robert R Murayama Kei K Janecke Andreas R AR Haack Tobias B TB Breuer Maximilian M Knisely A S AS Harting Inga I Ohashi Toya T Okazaki Yasushi Y Watanabe Daisaku D Tokuzawa Yoshimi Y Kotzaeridou Urania U Kölker Stefan S Sauer Sven S Carl Matthias M Straub Simon S Entenmann Andreas A Gizewski Elke E Feichtinger René G RG Mayr Johannes A JA Lackner Karoline K Strom Tim M TM Meitinger Thomas T Müller Thomas T Ohtake Akira A Hoffmann Georg F GF Prokisch Holger H Staufner Christian C

American journal of human genetics 20160714 2

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 ...[more]

PMID: 27426735

Dataset Information

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

Publications

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

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