| |  Online resource |
|---|
| Verfasst von: | 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] |
|---|
| Titel: | Biallelic IARS mutations cause growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and infantile hepatopathy |
|---|
| Verf.angabe: | 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 |
|---|
| E-Jahr: | 2016 |
|---|
| Jahr: | 14 July 2016 |
|---|
| Umfang: | 9 S. |
|---|
| Fussnoten: | Gesehen am 22.03.2018 |
|---|
| Titel Quelle: | Enthalten in: The American journal of human genetics |
|---|
| Ort Quelle: | New York, NY [u.a.] : Cell Press, 1949 |
|---|
| Jahr Quelle: | 2016 |
|---|
| Band/Heft Quelle: | 99(2016), 2, Seite 414-422 |
|---|
| ISSN Quelle: | 1537-6605 |
|---|
| 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. |
|---|
| DOI: | doi:10.1016/j.ajhg.2016.05.027 |
|---|
| URL: | Bibliographic entry. University members only receive access to full-texts for open access or licensed publications.
kostenfrei: Volltext: http://dx.doi.org/10.1016/j.ajhg.2016.05.027 |
|---|
| | kostenfrei: Volltext: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974065/ |
|---|
| | DOI: https://doi.org/10.1016/j.ajhg.2016.05.027 |
|---|
| Datenträger: | Online-Ressource |
|---|
| Sprache: | eng |
|---|
| K10plus-PPN: | 1571339469 |
|---|
| Verknüpfungen: | → Journal |
|---|
Biallelic IARS mutations cause growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and infantile hepatopathy / Kopajtich, Robert [VerfasserIn]; 14 July 2016 (Online-Ressource)
