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SHR Neuro Krebs Kardio Lipid

Kopajtich, R; Murayama, K; Janecke, AR; Haack, TB; Breuer, M; Knisely, AS; Harting, I; Ohashi, T; Okazaki, Y; Watanabe, D; Tokuzawa, Y; Kotzaeridou, U; Kölker, S; Sauer, S; Carl, M; Straub, S; Entenmann, A; Gizewski, E; Feichtinger, RG; Mayr, JA; Lackner, K; Strom, TM; Meitinger, T; Müller, T; Ohtake, A; Hoffmann, GF; Prokisch, H; Staufner, C.
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
Am J Hum Genet. 2016; 99(2):414-422 (- Case Report) [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

Autor/innen der Med Uni Graz:
Knisely Alexander
Lackner Karoline
Müller Thomas
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Number of Figures: 3
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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. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Find related publications in this database (using NLM MeSH Indexing)
Adolescent -
Alleles -
Animals -
Child -
Child, Preschool -
Dietary Supplements -
Fatty Liver - genetics
Female -
Fetal Growth Retardation - genetics
Fibrosis - genetics
Humans -
Infant -
Infant, Newborn -
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
Mutation -
Syndrome -
Zebrafish - genetics
Zinc - administration & dosage
Zinc - deficiency
Zinc - therapeutic use

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