Bi‐allelic IARS mutations in a child with intra‐uterine growth retardation,neonatal cholestasis,and mild developmental delay |
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| Authors: | N. Orenstein K. Weiss S.N. Oprescu R. Shapira D. Kidron L. Vanagaite‐Basel A. Antonellis M. Muenke |
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| Affiliation: | 1. Department of Pediatric Genetics, Schneider Children Medical Center of Israel, Petah Tikva, Israel;2. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel;3. Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA;4. Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA;5. Department of Pathology, Meir Hospital, Kfar Saba, Israel;6. Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel;7. Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikvay, Israel |
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| Abstract: | 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. |
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| Keywords: | cholestasis connective tissue development growth IARS vitamin D |
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