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OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum

dc.rights.licenseopenen_US
dc.contributor.authorCELSE, Tristan
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorTINGAUD-SEQUEIRA, Angele
dc.contributor.authorDIETERICH, Klaus
dc.contributor.authorSIEGFRIED, Geraldine
dc.contributor.authorLECAIGNEC, Cédric
dc.contributor.authorBOUNEAU, Laurence
dc.contributor.authorFANNEMEL, Madeleine
dc.contributor.authorSALAUN, Gaelle
dc.contributor.authorLAFFARGUE, Fanny
dc.contributor.authorMARTINEZ, Guillaume
dc.contributor.authorSATRE, Véronique
dc.contributor.authorVIEVILLE, Gaelle
dc.contributor.authorBIDART, Marie
dc.contributor.authorSOUSSI ZANDER, Cecilia
dc.contributor.authorTURESSON, Ann-Charlotte
dc.contributor.authorSPLITT, Miranda
dc.contributor.authorREBOUL, Dorothee
dc.contributor.authorCHIESA, Jean
dc.contributor.authorKHAU VAN KIEN, Philippe
dc.contributor.authorGODIN, Manon
dc.contributor.authorGRUCHY, Nicolas
dc.contributor.authorGOEL, Himanshu
dc.contributor.authorPALMER, Elizabeth E
dc.contributor.authorDEMETRIOU, Kalliope
dc.contributor.authorSHALHOUB, Carolyn
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorROORYCK-THAMBO, Caroline
dc.contributor.authorCOUTTON, Charles
dc.date.accessioned2023-11-16T15:26:12Z
dc.date.available2023-11-16T15:26:12Z
dc.date.issued2023-06-01
dc.identifier.issn1468-6244en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/184822
dc.description.abstractEnOculo-auriculo-vertebral spectrum (OAVS) is the second most common cause of head and neck malformations in children after orofacial clefts. OAVS is clinically heterogeneous and characterised by a broad range of clinical features including ear anomalies with or without hearing loss, hemifacial microsomia, orofacial clefts, ocular defects and vertebral abnormalities. Various genetic causes were associated with OAVS and copy number variations represent a recurrent cause of OAVS, but the responsible gene often remains elusive. We described an international cohort of 17 patients, including 10 probands and 7 affected relatives, presenting with OAVS and carrying a 14q22.3 microduplication detected using chromosomal microarray analysis. For each patient, clinical data were collected using a detailed questionnaire addressed to the referring clinicians. We subsequently studied the effects of overexpression in a zebrafish model. We defined a 272 kb minimal common region that only overlaps with the gene. Head and face defects with a predominance of ear malformations were present in 100% of patients. The variability in expressivity was significant, ranging from simple chondromas to severe microtia, even between intrafamilial cases. Heterologous overexpression of in zebrafish embryos showed significant effects on early development with alterations in craniofacial development. Our results indicate that proper dosage seems to be critical for the normal development of the first and second branchial arches. Overall, we demonstrated that genomic duplications are a recurrent cause of OAVS marked by auricular malformations of variable severity.
dc.language.isoENen_US
dc.subject.enHumans
dc.subject.enAnimals
dc.subject.enGoldenhar Syndrome
dc.subject.enZebrafish
dc.subject.enCleft Lip
dc.subject.enDNA Copy Number Variations
dc.subject.enCleft Palate
dc.subject.enOtx Transcription Factors
dc.title.enOTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum
dc.title.alternativeJ Med Geneten_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1136/jmg-2022-108678en_US
dc.subject.halSciences du Vivant [q-bio]en_US
dc.identifier.pubmed36368868en_US
bordeaux.journalJournal of Medical Geneticsen_US
bordeaux.page620-626en_US
bordeaux.volume60en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue6en_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.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Journal%20of%20Medical%20Genetics&rft.date=2023-06-01&rft.volume=60&rft.issue=6&rft.spage=620-626&rft.epage=620-626&rft.eissn=1468-6244&rft.issn=1468-6244&rft.au=CELSE,%20Tristan&TINGAUD-SEQUEIRA,%20Angele&DIETERICH,%20Klaus&SIEGFRIED,%20Geraldine&LECAIGNEC,%20C%C3%A9dric&rft.genre=article


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