Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum.
| dc.rights.license | open | en_US |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | SEQUEIRA, Angele | |
| hal.structure.identifier | Université de Bordeaux [UB] | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | SAGARDOY, Thomas | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| dc.contributor.author | BOURGEADE, Laetitia | |
| hal.structure.identifier | Hôpital Pellegrin | |
| hal.structure.identifier | Service de génétique médicale | |
| hal.structure.identifier | Chercheur indépendant | |
| hal.structure.identifier | Université de Bordeaux [UB] | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
| hal.structure.identifier | CHU de Bordeaux Pellegrin [Bordeaux] | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | LACOMBE, Didier | |
| hal.structure.identifier | Centre Hospitalier Universitaire de Martinique [Fort-de-France, Martinique] [CHU de Martinique] | |
| dc.contributor.author | SARRAZIN, Elizabeth | |
| hal.structure.identifier | Service de génétique [Tours] | |
| dc.contributor.author | TOUTAIN, Annick | |
| hal.structure.identifier | Service de génétique médicale | |
| hal.structure.identifier | CHU de Bordeaux Pellegrin [Bordeaux] | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | ROORYCK, Caroline | |
| dc.date.accessioned | 2025-05-30T07:23:00Z | |
| dc.date.available | 2025-05-30T07:23:00Z | |
| dc.date.issued | 2025-05-01 | |
| dc.identifier.issn | 1476-5438 | en_US |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/206778 | |
| dc.description.abstractEn | Molecular bases of the clinically heterogenous Oculo-Auriculo-Vertebral Spectrum or Craniofacial Microsomia remain largely unknown. Although genetic diagnosis is established in less than 10% of the patients, variants in the FOXI3 gene are the most recurrent genetic cause. We studied a large family with 6 affected individuals on 4 generations showing an autosomal dominant transmission of Oculo-Auriculo-Vertebral Spectrum with incomplete penetrance. The genome sequencing strategy allowed the identification of a new likely pathogenic missense variant located within the Nuclear Localization Signal of FOXI3 and affecting its subcellular localization. Moreover, we described 3 additional rare FOXI3 variants identified in 3 other patients from a cohort of 251 patients with Oculo-Auriculo-Vertebral Spectrum. These variants were classified as Variants of Unknown Significance. In conclusion, this study confirms FOXI3 implication in the Oculo-Auriculo-Vertebral Spectrum and the importance of Nuclear Localization Signal integrity. Genotype-phenotype correlations and putative modifier haplotype are discussed. | |
| dc.language.iso | EN | en_US |
| dc.subject.en | Humans | |
| dc.subject.en | Male | |
| dc.subject.en | Female | |
| dc.subject.en | Goldenhar Syndrome | |
| dc.subject.en | Pedigree | |
| dc.subject.en | Mutation | |
| dc.subject.en | Missense | |
| dc.subject.en | Adult | |
| dc.title.en | Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum. | |
| dc.title.alternative | Eur J Hum Genet | en_US |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.1038/s41431-025-01837-6 | en_US |
| dc.subject.hal | Sciences du Vivant [q-bio]/Génétique | en_US |
| dc.identifier.pubmed | 40128339 | en_US |
| bordeaux.journal | European Journal of Human Genetics | en_US |
| bordeaux.page | 683-687 | en_US |
| bordeaux.volume | 33 | en_US |
| bordeaux.hal.laboratories | Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 | en_US |
| bordeaux.issue | 5 | en_US |
| bordeaux.institution | Université de Bordeaux | en_US |
| bordeaux.institution | INSERM | en_US |
| bordeaux.peerReviewed | oui | en_US |
| bordeaux.inpress | non | en_US |
| bordeaux.identifier.funderID | Fondation Maladies Rares | en_US |
| bordeaux.identifier.funderID | Académie Nationale de Médecine | en_US |
| bordeaux.import.source | pubmed | |
| hal.identifier | hal-05090326 | |
| hal.version | 1 | |
| hal.date.transferred | 2025-05-30T07:23:03Z | |
| hal.popular | non | en_US |
| hal.audience | Internationale | en_US |
| hal.export | true | |
| workflow.import.source | pubmed | |
| dc.rights.cc | Pas de Licence CC | en_US |
| bordeaux.COinS | ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=European%20Journal%20of%20Human%20Genetics&rft.date=2025-05-01&rft.volume=33&rft.issue=5&rft.spage=683-687&rft.epage=683-687&rft.eissn=1476-5438&rft.issn=1476-5438&rft.au=SEQUEIRA,%20Angele&SAGARDOY,%20Thomas&BOURGEADE,%20Laetitia&LACOMBE,%20Didier&SARRAZIN,%20Elizabeth&rft.genre=article |
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