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Biallelic IARS mutations cause growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and infantile hepatopathy

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 se...

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Bibliographische Detailangaben
Hauptverfasser: Kopajtich, Robert (VerfasserIn) , Breuer, Maximilian (VerfasserIn) , Harting, Inga (VerfasserIn) , Kotzaeridou, Urania (VerfasserIn) , Kölker, Stefan (VerfasserIn) , Sauer, Sven (VerfasserIn) , Carl, Matthias (VerfasserIn) , Hoffmann, Georg F. (VerfasserIn) , Staufner, Christian (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 14 July 2016
In: The American journal of human genetics
Year: 2016, Jahrgang: 99, Heft: 2, Pages: 414-422
ISSN:1537-6605
DOI:10.1016/j.ajhg.2016.05.027
Online-Zugang:Verlag, kostenfrei, Volltext: http://dx.doi.org/10.1016/j.ajhg.2016.05.027
Verlag, kostenfrei, Volltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974065/
Volltext
Verfasserangaben:Robert Kopajtich, Kei Murayama, Andreas R. Janecke, Tobias B. Haack, Maximilian Breuer, A.S. Knisely, Inga Harting, Toya Ohashi, Yasushi Okazaki, Daisaku Watanabe, Yoshimi Tokuzawa, Urania Kotzaeridou, Stefan Kölker, Sven Sauer, Matthias Carl, Simon Straub, Andreas Entenmann, Elke Gizewski, René G. Feichtinger, Johannes A. Mayr, Karoline Lackner, Tim M. Strom, Thomas Meitinger, Thomas Müller, Akira Ohtake, Georg F. Hoffmann, Holger Prokisch, and Christian Staufner
Beschreibung
Zusammenfassung: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.
Beschreibung:Gesehen am 22.03.2018
Beschreibung:Online Resource
ISSN:1537-6605
DOI:10.1016/j.ajhg.2016.05.027

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