%0 Case Reports
%T Genotype-phenotype correlation in IARS2-related diseases: A case report and review of literature.
%A Upadia J
%A Li Y
%A Walano N
%A Deputy S
%A Gajewski K
%A Andersson HC
%J Clin Case Rep
%V 10
%N 2
%D Feb 2022
%M 35228874
暂无%R 10.1002/ccr3.5401
%X Isoleucyl-tRNA synthetase 2 (IARS2) encodes mitochondrial isoleucine-tRNA synthetase. Pathogenic variants in the IARS2 gene are associated with mitochondrial disease. We report a female with IARS2 compound heterozygous variants, p.Val499Glyfs*14 and p.Arg784Trp who presented with infantile spasms, Leigh disease and Wolff-Parkinson White (WPW) pattern. This report expands the phenotypic spectrum of IARS2-related disease.