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

dc.rights.licenseopenen_US
dc.contributor.authorJIN, Danni
dc.contributor.authorWEK, Sheree A
dc.contributor.authorCORDOVA, Ricardo A
dc.contributor.authorWEK, Ronald C
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMICHAUD, Vincent
IDREF: 243713878
dc.contributor.authorMUSIER-FORSYTH, Karin
dc.date.accessioned2023-11-14T14:10:35Z
dc.date.available2023-11-14T14:10:35Z
dc.date.issued2023-03-01
dc.identifier.issn1399-0004en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/184757
dc.description.abstractEnAminoacyl-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.
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subjectAminoacylation
dc.subjectAminoacyl-tRNA synthetase
dc.subjectEPRS1
dc.subjectExome sequencing
dc.subjectIntegrated stress response
dc.subjectLeukodystrophy
dc.subjectPsychomotor developmental delay
dc.subjecttRNA
dc.title.enAminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness.
dc.title.alternativeClin Geneten_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1111/cge.14269en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed36411955en_US
bordeaux.journalClinical Geneticsen_US
bordeaux.page358-363en_US
bordeaux.volume103en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue3en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.identifierhal-04285062
hal.version1
hal.date.transferred2023-11-14T14:10:39Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
workflow.import.sourcepubmed
dc.rights.ccCC BY-SAen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Clinical%20Genetics&rft.date=2023-03-01&rft.volume=103&rft.issue=3&rft.spage=358-363&rft.epage=358-363&rft.eissn=1399-0004&rft.issn=1399-0004&rft.au=JIN,%20Danni&WEK,%20Sheree%20A&CORDOVA,%20Ricardo%20A&WEK,%20Ronald%20C&LACOMBE,%20Didier&rft.genre=article


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