학술논문
Genotype–phenotype correlation in IARS2‐related diseases: A case report and review of literature.
Document Type
Article
Author
Source
Subject
*REPORTING of diseases
*LITERATURE reviews
*GENETIC variation
*INFANTILE spasms
*MITOCHONDRIA
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Language
ISSN
2050-0904
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. [ABSTRACT FROM AUTHOR]