CUINAT, Silvestre; QUÉLIN, Chloé; EFFRAY, Claire; DUBOURG, Christèle; LE BOUAR, Gwenaelle; CABARET-DUFOUR, Anne-Sophie; LOGET, Philippe; PROISY, Maia; SAUVESTRE, Fanny; SARREAU, Mélie; MARTIN-BERENGUER, Sophie; BENETEAU, Claire; NAUDION, Sophie; MICHAUD, Vincent; ARVEILER, Benoit; TRIMOUILLE, Aurelien; MACÉ, Pierre; SIGAUDY, Sabine; GLAZUNOVA, Olga; TORRENTS, Julia; RAYMOND, Laure; SAINT-FRISON, Marie-Hélène; ATTIÉ-BITACH, Tania; LEFEBVRE, Mathilde; CAPRI, Yline; BOURGON, Nicolas; THAUVIN-ROBINET, Christel; TRAN MAU-THEM, Frédéric; BRUEL, Ange-Line; VITOBELLO, Antonio; DENOMMÉ-PICHON, Anne-Sophie; FAIVRE, Laurence; BREHIN, Anne-Claire; GOLDENBERG, Alice; PATRIER-SALLEBERT, Sophie; PERANI, Alexandre; DAURIAT, Benjamin; BOURTHOUMIEU, Sylvie; YARDIN, Catherine; MARQUET, Valentine; BARNIQUE, Marion; FIORENZA-GASQ, Maryse; MAREY, Isabelle; TOURNADRE, Danielle; DOUMIT, Raïa; NUGUES, Frédérique; BARAKAT, Tahsin Stefan; BUSTOS, Francisco; JAILLARD, Sylvie; LAUNAY, Erika; PASQUIER, Laurent; ODENT, Sylvie

doi:10.1136/jmg-2024-109854

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Article de revue

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Journal of Medical Genetics. 2024-06-07p. 109854

Résumé en anglais

Tonne-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congenital anomalies in five male fetuses, a call for collaboration was made, resulting in a cohort of 11 previously unpublished cases.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.< Réduire

Mots clés en anglais

Exome sequencing

Genetic diseases

Inborn

Genetic diseases

X-Linked

Genetics

Genomics

URI

https://oskar-bordeaux.fr/handle/20.500.12278/201339

DOI

http://dx.doi.org/10.1136/jmg-2024-109854

Unités de recherche

Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211

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

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Résumé en anglais

Mots clés en anglais

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