Growth retardation and hepatopathy associated with single heterozygous mutations in the IARS1 gene： A case report

VernacularTitle:IARS1单杂合突变相关生长迟缓和肝病1例报告
Author: Yang LI ¹ ; Di MAO ¹ ; Liya WEI ¹ ; Chunxiu GONG ¹
Author Information

1. Department of Endocrinology， Genetics， Metabolism and Adolescent Medicine， National Center for Children’s Health， Beijing Children’s Hospital， Capital Medical University， Beijing 100045， China
Publication Type:Case Reports
Keywords: Frameshift Mutation; Liver Diseases; Child
From: Journal of Clinical Hepatology 2025;41(4):731-735
CountryChina
Language:Chinese
Abstract: Mutations in the IARS1 gene are rare in clinical practice， and up to now， only ten cases with detailed clinical and genetic data have been recorded in the literature. This article reports a case of growth retardation， intellectual developmental disorder， hypotonia， and hepatopathy （GRIDHH） associated with single heterozygous mutations in the IARS1 gene and summarizes the clinical and genetic features of GRIDHH， thereby expanding the genetic spectrum of GRIDHH.