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

Jariya Upadia; Yuwen Li; Nicolette Walano; Stephen Deputy; Kelly Gajewski; Hans C Andersson

doi:10.1002/ccr3.5401

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

Clin Case Rep. 2022 Feb 24;10(2):e05401. doi: 10.1002/ccr3.5401. eCollection 2022 Feb.

Authors

Jariya Upadia^{1

2}, Yuwen Li^{1

2}, Nicolette Walano^{1

2}, Stephen Deputy³, Kelly Gajewski⁴, Hans C Andersson^{1

2}

Affiliations

¹ Hayward Genetics Center Tulane University School of Medicine New Orleans Louisiana USA.
² Department of Pediatrics Tulane University School of Medicine New Orleans Louisiana USA.
³ Division of Pediatric Neurology Department of Pediatrics Louisiana State University Health Sciences Center/Children's Hospital New Orleans Louisiana USA.
⁴ Division of Pediatric Cardiology Department of Pediatrics Louisiana State University Health Sciences Center/Children's Hospital New Orleans Louisiana USA.

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.

Keywords: CAGSSS; IARS2; WPW; West syndrome; mitochondrial disease.

Publication types

Case Reports