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Article

Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness.

Clinical genetics - 1 Mar 2023

Jin Danni, Wek Sheree A, Cordova Ricardo A, Wek Ronald C, Lacombe Didier, Michaud Vincent, Musier-Forsyth Karin

Abstract excerpt

Aminoacyl-tRNA synthetases are enzymes that ensure accurate protein synthesis. Variants of the dual-functional cytoplasmic human glutamyl-prolyl-tRNA synthetase, EPRS1, have been associated with leukodystrophy, diabetes and bone disease. Here, we report compound heterozygous variants in EPRS1 in a 4-year-old female patient presenting with psychomotor developmental delay, seizures and deafness. Functional studies...

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Identifiers

PMID: 36411955
DOI: 10.1111/cge.14269
PMCID: PMC9898101

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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