Atypical Presentation of IARS1‐Related Disorder: Expanding the Phenotype and Genotype

ABSTRACT Aminoacyl‐tRNA synthetases (ARSs) catalyze the formation of aminoacyl‐tRNA, which is required for protein translation. A growing number of cases are associated with ARS deficiencies. Pathogenic variants in IARS1 (MIM# 600709), encoding cytoplasmic isoleucyl‐tRNA synthetase, have been associ...

Full description

Bibliographic Details

Published in:	JIMD Reports
Main Authors:	Parith Wongkittichote, Kira E. Jonatzke, Benjamin T. Hyde, Lance W. Peterson, Mai He, Robert C. McKinstry, Anthony Antonellis, Marwan Shinawi
Format:	Article
Language:	English
Published:	Wiley 2025-05-01
Subjects:	aminoacyl‐tRNA synthetase aminoacyl‐tRNA synthetase deficiencies growth retardation, impaired intellectual development, hypotonia, and hepatopathy IARS1 immune dysregulation isoleucine
Online Access:	https://doi.org/10.1002/jmd2.70020