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Bi‐allelic IARS mutations in a child with intra‐uterine growth retardation, neonatal cholestasis, and mild developmental delay

Recently, bi‐allelic mutations in cytosolic isoleucyl‐tRNA synthetase (IARS) have been described in three individuals with growth delay, hepatic dysfunction, and neurodevelopmental disabilities. Here we report an additional subject with this condition identified by whole‐exome sequencing. Our findin...

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Bibliographic Details
Published in:Clinical genetics 2017-06, Vol.91 (6), p.913-917
Main Authors: Orenstein, N., Weiss, K., Oprescu, S.N., Shapira, R., Kidron, D., Vanagaite‐Basel, L., Antonellis, A., Muenke, M.
Format: Article
Language:English
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Summary:Recently, bi‐allelic mutations in cytosolic isoleucyl‐tRNA synthetase (IARS) have been described in three individuals with growth delay, hepatic dysfunction, and neurodevelopmental disabilities. Here we report an additional subject with this condition identified by whole‐exome sequencing. Our findings support the association between this disorder and neonatal cholestasis with distinct liver pathology. Furthermore, we provide functional data on two novel missense substitutions and expand the phenotype to include mild developmental delay, skin hyper‐elasticity, and hypervitaminosis D.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.12930