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The phenotypic spectrum of CEP250 gene variants

dc.rights.licenseopenen_US
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorCOURDIER, Cécile
dc.contributor.authorDHAENENS, Claire-Marie
dc.contributor.authorGRUNEWALD, Olivier
dc.contributor.authorGUERROT, Anne-Marie
dc.contributor.authorAUDO, Isabelle
dc.contributor.authorLECLEIRE-COLLET, Amélie
dc.contributor.authorAMSTUTZ-MONTADERT, Isabelle
dc.contributor.authorGAD, Shai
hal.structure.identifierUniversité de Bordeaux [UB]
dc.contributor.authorLAPEYRE, Gabrielle
dc.contributor.authorZANLONGHI, Xavier
dc.contributor.authorBONNEAU, Dominique
dc.contributor.authorFRADIN, Mélanie
dc.contributor.authorLE MEUR, Guylène
dc.contributor.authorMARLIN, Sandrine
dc.contributor.authorBLANC, Pierre
dc.contributor.authorROUX, Anne-Françoise
dc.contributor.authorMEUNIER, Isabelle
hal.structure.identifierUniversité de Bordeaux [UB]
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMICHAUD, Vincent
dc.date.accessioned2025-01-28T11:39:42Z
dc.date.available2025-01-28T11:39:42Z
dc.date.issued2024-11-28
dc.identifier.issn1744-5094en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/204623
dc.description.abstractEnClassically, Usher syndrome is characterized by the association of sensorineural hearing loss (SNHL), retinitis pigmentosa (RP) and possible vestibular dysfunction. Pathogenic bi-allelic variants in cause atypical autosomal recessive Usher syndrome, which is associated with SNHL and photoreceptors dysfunction without vestibular signs. To date, only 19 scattered descriptions have been reported. In this study, we present detailed clinical and genetic description of 7 unrelated individuals with related disease, along with a literature review to provide new insight on the severity and course of the disease. We retrospectively recruited 7 unrelated individuals who underwent genetic testing (targeted gene panel or whole genome sequencing) and were found to carry pathogenic variants. Most patients (5/7) exhibit both retinal dystrophy and SNHL. Two patients appear to present either isolated hearing loss or visual impairment, but further investigations are needed to confirm a possible non-syndromic presentation. All patients harbored isolated truncating variants. pathogenic variants are associated with post-lingual SNHL, and most often progressive photoreceptor dysfunction. The disease may begin with ocular features or hearing loss. We strongly recommend genetic analysis of classical and atypical Usher related-genes, in patients with isolated retinal dystrophy or SNHL. We also recommend ophthalmological evaluation and follow-up in patients with isolated SNHL, and conversely. The coexistence of loss- and gain-of-function effects may exist, complicating the development of gene therapy.
dc.language.isoENen_US
dc.subject.enCEP250
dc.subject.enatypical Usher syndrome
dc.subject.enbi-allelic
dc.titleThe phenotypic spectrum of CEP250 gene variants
dc.title.alternativeOphthalmic Geneten_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1080/13816810.2024.2434045en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed39610034en_US
bordeaux.journalOphthalmic Geneticsen_US
bordeaux.page1-8en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.identifierhal-04916540
hal.version1
hal.date.transferred2025-01-28T11:39:45Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
workflow.import.sourcepubmed
dc.rights.ccCC BY-NC-NDen_US
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