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Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in gene.

dc.rights.licenseopenen_US
hal.structure.identifierService de génétique médicale
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
dc.contributor.authorSAUVESTRE, Clément
dc.contributor.authorBOILEAU, Marie-José
dc.contributor.authorCAULE, Camille
hal.structure.identifierService de génétique médicale
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
dc.contributor.authorGRIFFITHS, Didier
hal.structure.identifierPolyclinique Bordeaux Nord Aquitaine [PBNA]
dc.contributor.authorSCHRUB, Florian
hal.structure.identifierCentre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO) et Service de Génétique Médicale
dc.contributor.authorCHASSAING, Nicolas
hal.structure.identifierService de génétique médicale
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorROORYCK, Caroline
dc.date.accessioned2024-12-06T15:12:53Z
dc.date.available2024-12-06T15:12:53Z
dc.date.issued2024-10-11
dc.identifier.issn1467-1107en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/203742
dc.description.abstractEnRadiculomegaly is a rare dental anomaly characterised by the enlargement of the root canals of teeth. It is usually associated with oculo-facio-cardio-dental (OFCD) syndrome due to truncating variants in BCL-6 transcriptional corepressor () (MIM*300485). We present the case of a 21-year-old female patient who was referred to genetics for a polymalformative syndrome including bilateral glaucoma and dental anomalies, especially radiculomegaly. Some others dysmorphic features were right superior lip notch, ogival palate, long philtrum, difficulty in pronation, café-au-lait spots, II-III toe bilateral syndactyly, and macrocephaly. Cone-beam CT confirmed radiculomegaly. The genetic analysis identified a heterozygous pathogenic variant NM_001123385.1:c.2093del (p.Pro698Glnfs*17) in the gene. After genetic diagnosis of OFCD syndrome, cardiac CT-scan revealed a large asymptomatic atrial septal defect that was subsequently surgically closed. Reviews of the literature have previously highlighted the prevalence of radiculomegaly in OFCD syndrome with a positive predictive value of 88.23% and a sensitivity of 75.94%. This case report highlights the importance of radiculomegaly as a clinical sign of OFCD syndrome, emphasising the rarity of non-syndromic radiculomegaly and the benefits of its diagnosis in clinical management, especially in cardiac screening.
dc.language.isoENen_US
dc.subject.enRadiculomegaly
dc.subject.enBCOR gene
dc.subject.enOculo-faciocardio- dental syndrome
dc.subject.enMicrophthalmia syndromic type 2
dc.title.enRadiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in gene.
dc.title.alternativeCardiol Youngen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1017/S104795112402660Xen_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed39390895en_US
bordeaux.journalCardiology in the Youngen_US
bordeaux.page1-4en_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-04823871
hal.version1
hal.date.transferred2024-12-06T15:12:55Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
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=Cardiology%20in%20the%20Young&rft.date=2024-10-11&rft.spage=1-4&rft.epage=1-4&rft.eissn=1467-1107&rft.issn=1467-1107&rft.au=SAUVESTRE,%20Cl%C3%A9ment&BOILEAU,%20Marie-Jos%C3%A9&CAULE,%20Camille&GRIFFITHS,%20Didier&SCHRUB,%20Florian&rft.genre=article


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