Genotype–phenotype correlation in IARS2‐related diseases: A case report and review of literature
Jariya Upadia, Yuwen Li, Nicolette Walano and 3 more
Clinical Case Reports · 2022
doi:10.1002/ccr3.5401 (opens in a new tab)
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Abstract
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 licence: CC BY-NC
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