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

doi:10.1016/j.ajhg.2016.05.027

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Article

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

American journal of human genetics - 4 Aug 2016

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

Abstract excerpt

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...

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PMID: 27426735
DOI: 10.1016/j.ajhg.2016.05.027
PMCID: PMC4974065

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