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

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...

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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
Series:JIMD Reports
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
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https://doi.org/10.1002/jmd2.70020

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