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

Authors

• Jariya Upadia, Tulane University School of Medicine, New Orleans, LA
• Yuwen Li, Tulane University School of Medicine, New Orleans, LA
• Nicolette Walano, Tulane University School of Medicine, New Orleans, LA
• Stephen Deputy, LSU Health Sciences Center - New Orleans
• Kelly Gajewski, LSU Health Sciences Center - New OrleansFollow
• Hans C. Andersson, Tulane University School of Medicine, New Orleans, LA

Document Type

Article

Publication Date

2-24-2022

Publication Title

Clinical Case Reports

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.

Volume

10

Issue

2

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-No Derivative Works 4.0 International License.

Recommended Citation

Upadia, Jariya; Li, Yuwen; Walano, Nicolette; Deputy, Stephen; Gajewski, Kelly; and Andersson, Hans C., "Genotype–phenotype correlation in IARS2-related diseases: A case report and review of literature" (2022). School of Medicine Faculty Publications. 4984.
https://digitalscholar.lsuhsc.edu/som_facpubs/4984
10.1002/ccr3.5401