Genotype–phenotype correlation in IARS2‐related diseases: A case report and review of literature
oleh: Jariya Upadia, Yuwen Li, Nicolette Walano, Stephen Deputy, Kelly Gajewski, Hans C. Andersson
| Format: | Article |
|---|---|
| Diterbitkan: | Wiley 2022-02-01 |
Deskripsi
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.