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

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, L...

Descripción completa

Detalles Bibliográficos
Autores principales: Upadia, Jariya, Li, Yuwen, Walano, Nicolette, Deputy, Stephen, Gajewski, Kelly, Andersson, Hans C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8867157/
https://www.ncbi.nlm.nih.gov/pubmed/35228874
http://dx.doi.org/10.1002/ccr3.5401
Descripción
Sumario: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.

Ejemplares similares