Genotype–phenotype correlation in IARS2‐related diseases: A case report and review of literature
Jariya Upadia, Yuwen Li, Nicolette Walano, Stephen Deputy, Kelly K. Gajewski, Hans C. Andersson
Abstract
Abstract 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.
Topics & Concepts
PhenotypeGeneticsMedicineGenotypeDiseaseMitochondrial diseaseGeneCompound heterozygosityClinical phenotypeTransfer RNABiologyMitochondrial DNAPathologyRNAMitochondrial Function and PathologyMetabolism and Genetic DisordersATP Synthase and ATPases Research