Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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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 Aurélien, 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
Аннотация
METHOD: 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congenital anomalies in five male fetuses, a call for collaboration was made, resulting in a cohort of 11 previously unpublished cases.
RESULTS: 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 RLIM, outside of the two previously known mutational hotspots.
CONCLUSION: 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.