Ontology highlight
ABSTRACT:
SUBMITTER: Orenstein N
PROVIDER: S-EPMC5639925 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Orenstein N N Weiss K K Oprescu S N SN Shapira R R Kidron D D Vanagaite-Basel L L Antonellis A A Muenke M M
Clinical genetics 20170222 6
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 phen ...[more]