Genotype–phenotype correlation in IARS2‐related diseases: A case report and review of literature

Abstract

Isoleucyl-tRNA synthetase 2 <i>(IARS2)</i> encodes mitochondrial isoleucine-tRNA synthetase. Pathogenic variants in the <i>IARS2</i> gene are associated with mitochondrial disease. We report a female with <i>IARS2</i> 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 <i>IARS2</i>-related disease.