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Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.

dc.rights.licenseopenen_US
dc.contributor.authorCUINAT, Silvestre
dc.contributor.authorQUÉLIN, Chloé
dc.contributor.authorEFFRAY, Claire
dc.contributor.authorDUBOURG, Christèle
dc.contributor.authorLE BOUAR, Gwenaelle
dc.contributor.authorCABARET-DUFOUR, Anne-Sophie
dc.contributor.authorLOGET, Philippe
dc.contributor.authorPROISY, Maia
dc.contributor.authorSAUVESTRE, Fanny
dc.contributor.authorSARREAU, Mélie
dc.contributor.authorMARTIN-BERENGUER, Sophie
dc.contributor.authorBENETEAU, Claire
dc.contributor.authorNAUDION, Sophie
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
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.authorARVEILER, Benoit
hal.structure.identifierHôpital Pellegrin
hal.structure.identifierService de génétique médicale
hal.structure.identifierBiothérapies des maladies génétiques et cancers
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.authorTRIMOUILLE, Aurelien
dc.contributor.authorMACÉ, Pierre
dc.contributor.authorSIGAUDY, Sabine
dc.contributor.authorGLAZUNOVA, Olga
dc.contributor.authorTORRENTS, Julia
dc.contributor.authorRAYMOND, Laure
dc.contributor.authorSAINT-FRISON, Marie-Hélène
dc.contributor.authorATTIÉ-BITACH, Tania
dc.contributor.authorLEFEBVRE, Mathilde
dc.contributor.authorCAPRI, Yline
dc.contributor.authorBOURGON, Nicolas
dc.contributor.authorTHAUVIN-ROBINET, Christel
dc.contributor.authorTRAN MAU-THEM, Frédéric
dc.contributor.authorBRUEL, Ange-Line
dc.contributor.authorVITOBELLO, Antonio
dc.contributor.authorDENOMMÉ-PICHON, Anne-Sophie
dc.contributor.authorFAIVRE, Laurence
dc.contributor.authorBREHIN, Anne-Claire
dc.contributor.authorGOLDENBERG, Alice
dc.contributor.authorPATRIER-SALLEBERT, Sophie
dc.contributor.authorPERANI, Alexandre
dc.contributor.authorDAURIAT, Benjamin
dc.contributor.authorBOURTHOUMIEU, Sylvie
dc.contributor.authorYARDIN, Catherine
dc.contributor.authorMARQUET, Valentine
dc.contributor.authorBARNIQUE, Marion
dc.contributor.authorFIORENZA-GASQ, Maryse
dc.contributor.authorMAREY, Isabelle
dc.contributor.authorTOURNADRE, Danielle
dc.contributor.authorDOUMIT, Raïa
dc.contributor.authorNUGUES, Frédérique
dc.contributor.authorBARAKAT, Tahsin Stefan
dc.contributor.authorBUSTOS, Francisco
dc.contributor.authorJAILLARD, Sylvie
dc.contributor.authorLAUNAY, Erika
dc.contributor.authorPASQUIER, Laurent
dc.contributor.authorODENT, Sylvie
dc.date.accessioned2024-08-28T10:20:08Z
dc.date.available2024-08-28T10:20:08Z
dc.date.issued2024-06-07
dc.identifier.issn1468-6244en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/201339
dc.description.abstractEnTonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple congenital anomaly disorder caused by variations. Of the 41 patients reported, only 7 antenatal cases were described. After the antenatal diagnosis of TOKAS by exome analysis in a family followed for over 35 years because of multiple congenital anomalies in five male fetuses, a call for collaboration was made, resulting in a cohort of 11 previously unpublished cases. We present a TOKAS antenatal cohort, describing 11 new cases in 6 French families. We report a high frequency of diaphragmatic hernia (9 of 11), differences in sex development (10 of 11) and various visceral malformations. We report some recurrent dysmorphic features, but also pontocerebellar hypoplasia, pre-auricular skin tags and olfactory bulb abnormalities previously unreported in the literature. Although no clear genotype-phenotype correlation has yet emerged, we show that a recurrent p.(Arg611Cys) variant accounts for 66% of fetal TOKAS cases. We also report two new likely pathogenic variants in , outside of the two previously known mutational hotspots. Overall, we present the first fetal cohort of TOKAS, describe the clinical features that made it a recognisable syndrome at fetopathological examination, and extend the phenotypical spectrum and the known genotype of this rare disorder.
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subject.enExome sequencing
dc.subject.enGenetic diseases
dc.subject.enInborn
dc.subject.enGenetic diseases
dc.subject.enX-Linked
dc.subject.enGenetics
dc.subject.enGenomics
dc.title.enExtending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
dc.title.alternativeJ Med Geneten_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1136/jmg-2024-109854en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed38849204en_US
bordeaux.journalJournal of Medical Geneticsen_US
bordeaux.page109854en_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.identifier.funderIDCentre Hospitalier Universitaire de Rennesen_US
bordeaux.import.sourcepubmed
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
workflow.import.sourcepubmed
dc.rights.ccCC BYen_US
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