Genotype-phenotype correlation in IARS2-related diseases: A case report and review of literature.
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ABSTRACT:
SUBMITTER: Upadia J
PROVIDER: S-EPMC8867157 | biostudies-literature | 2022 Feb
REPOSITORIES: biostudies-literature
Publications
Genotype-phenotype correlation in IARS2-related diseases: A case report and review of literature.
Upadia Jariya J Li Yuwen Y Walano Nicolette N Deputy Stephen S Gajewski Kelly K Andersson Hans C HC
Clinical case reports 20220224 2
Isoleucyl-tRNA synthetase 2 <i>(IARS2)</i> encodes mitochondrial isoleucine-tRNA synthetase. Pathogenic variants in the <i>IARS2</i> gene are associated with mitochondrial disease. We report a female with <i>IARS2</i> 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 <i>IARS2</i>-related disease. ...[more]
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