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ARF1-related disorder: phenotypic and molecular spectrum

dc.rights.licenseopenen_US
dc.contributor.authorDE SAINTE AGATHE, Jean-Madeleine
dc.contributor.authorPODE-SHAKKED, Ben
hal.structure.identifierService de génétique médicale
hal.structure.identifierCHU Bordeaux
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorNAUDION, Sophie
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMICHAUD, Vincent
hal.structure.identifierService de génétique médicale
hal.structure.identifierCHU Bordeaux
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorARVEILER, Benoit
hal.structure.identifierHôpital Pellegrin
hal.structure.identifierService de génétique médicale
hal.structure.identifierCentre Génomique Fonctionnelle Bordeaux [Bordeaux] [CGFB]
hal.structure.identifierCHU Bordeaux
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorFERGELOT, Patricia
dc.contributor.authorDELMAS, Jean
dc.contributor.authorKEREN, Boris
dc.contributor.authorPOIRSIER, Céline
dc.contributor.authorALKURAYA, Fowzan S
dc.contributor.authorTABARKI, Brahim
dc.contributor.authorBEND, Eric
dc.contributor.authorDAVIS, Kellie
dc.contributor.authorBEBIN, Martina
dc.contributor.authorTHOMPSON, Michelle L
dc.contributor.authorBRYANT, Emily M
dc.contributor.authorWAGNER, Matias
dc.contributor.authorHANNIBAL, Iris
dc.contributor.authorLENBERG, Jerica
dc.contributor.authorKRENN, Martin
dc.contributor.authorWIGBY, Kristen M
dc.contributor.authorFRIEDMAN, Jennifer R
dc.contributor.authorIASCONE, Maria
dc.contributor.authorCEREDA, Anna
dc.contributor.authorMIAO, Térence
dc.contributor.authorLEGUERN, Eric
dc.contributor.authorARGILLI, Emanuela
dc.contributor.authorSHERR, Elliott
dc.contributor.authorCALUSERIU, Oana
dc.contributor.authorTIDWELL, Timothy
dc.contributor.authorBAYRAK-TOYDEMIR, Pinar
dc.contributor.authorHAGEDORN, Caroline
dc.contributor.authorBRUGGER, Melanie
dc.contributor.authorVILL, Katharina
dc.contributor.authorMORNEAU-JACOB, Francois-Dominique
dc.contributor.authorCHUNG, Wendy
dc.contributor.authorWEAVER, Kathryn N
dc.contributor.authorOWENS, Joshua W
dc.contributor.authorHUSAMI, Ammar
dc.contributor.authorCHAUDHARI, Bimal P
dc.contributor.authorSTONE, Brandon S
dc.contributor.authorBURNS, Katie
dc.contributor.authorLI, Rachel
dc.contributor.authorDE LANGE, Iris M
dc.contributor.authorBIEHLER, Margaux
dc.contributor.authorGINGLINGER, Emmanuelle
dc.contributor.authorGERARD, Benedicte
dc.contributor.authorSTOTTMANN, Rolf W
hal.structure.identifierService de génétique médicale
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorTRIMOUILLE, Aurelien
dc.date.accessioned2024-02-16T12:34:26Z
dc.date.available2024-02-16T12:34:26Z
dc.date.issued2023-04-25
dc.identifier.issn0022-2593en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/188205
dc.description.abstractEnwas previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive description of the phenotypic and genotypic spectrum of -related neurodevelopmental disorder. We collected detailed phenotypes of an international cohort of individuals (n=17) with variants assembled through the GeneMatcher platform. Missense variants were structurally modelled, and the impact of several were functionally validated. De novo variants (10 missense, 1 frameshift, 1 splice altering resulting in 9 residues insertion) in were identified among 17 unrelated individuals. Detailed phenotypes included intellectual disability (ID), microcephaly, seizures and PVNH. No specific facial characteristics were consistent across all cases, however microretrognathia was common. Various hearing and visual defects were recurrent, and interestingly, some inflammatory features were reported. MRI of the brain frequently showed abnormalities consistent with a neuronal migration disorder. We confirm the role of in an autosomal dominant syndrome with a phenotypic spectrum including severe ID, microcephaly, seizures and PVNH due to impaired neuronal migration.
dc.language.isoENen_US
dc.rightsAttribution-NonCommercial 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/3.0/us/*
dc.title.enARF1-related disorder: phenotypic and molecular spectrum
dc.title.alternativeJ Med Geneten_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1136/jmg-2022-108803en_US
dc.subject.halSciences du Vivant [q-bio]/Génétique/Génétique humaineen_US
dc.identifier.pubmed37185208en_US
bordeaux.journalJournal of Medical Geneticsen_US
bordeaux.page999-1005en_US
bordeaux.volume60en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue10en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
workflow.import.sourcepubmed
dc.rights.ccCC BY-NCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Journal%20of%20Medical%20Genetics&rft.date=2023-04-25&rft.volume=60&rft.issue=10&rft.spage=999-1005&rft.epage=999-1005&rft.eissn=0022-2593&rft.issn=0022-2593&rft.au=DE%20SAINTE%20AGATHE,%20Jean-Madeleine&PODE-SHAKKED,%20Ben&NAUDION,%20Sophie&MICHAUD,%20Vincent&ARVEILER,%20Benoit&rft.genre=article


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