Unknown

Dataset Information

0

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


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.

SUBMITTER: Orenstein N 

PROVIDER: S-EPMC5639925 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature

altmetric image

Publications

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

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]

Similar Datasets

| S-EPMC8453841 | biostudies-literature
| S-EPMC6218634 | biostudies-literature
| S-EPMC6848997 | biostudies-literature
| S-EPMC7447512 | biostudies-literature
| S-EPMC8059333 | biostudies-literature
| S-EPMC7559280 | biostudies-literature
| S-EPMC8599064 | biostudies-literature
| S-EPMC1236921 | biostudies-literature
| S-EPMC4652383 | biostudies-literature
2015-11-01 | GSE65051 | GEO