Atypical Presentation of <i>IARS1</i>-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 associated with autosomal recessive growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH, OMIM# 617093). To date, 11 GRIDHH patients have been described. We identified a patient who presented with recurrent episodes of liver failure in the setting of preceding infection and neurocognitive delay, and who recently presented with a clinical picture consistent with chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis. Exome sequencing revealed th

SUBMITTER: Wongkittichote P 

PROVIDER: S-EPMC12069011 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature