Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness.
LACOMBE, Didier
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
MICHAUD, Vincent
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
< Réduire
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
Langue
EN
Article de revue
Ce document a été publié dans
Clinical Genetics. 2023-03-01, vol. 103, n° 3, p. 358-363
Résumé en anglais
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 ...Lire la suite >
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 of these two missense mutations support major defects in enzymatic function in vitro and contributed to confirmation of the diagnosis.< Réduire
Mots clés
Aminoacylation
Aminoacyl-tRNA synthetase
EPRS1
Exome sequencing
Integrated stress response
Leukodystrophy
Psychomotor developmental delay
tRNA
Unités de recherche