Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS):new insights from the fetal perspective
| Title: | Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS):new insights from the fetal perspective |
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| Authors: | 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; id_orcid 0000-0003-1231-1562; Bustos, Francisco; Jaillard, Sylvie; Launay, Erika; Pasquier, Laurent; Odent, Sylvie |
| Source: | Cuinat, S, Quélin, C, Effray, C, Dubourg, C, Le Bouar, G, Cabaret-Dufour, A-S, Loget, P, Proisy, M, Sauvestre, F, Sarreau, M, Martin-Berenguer, S, Beneteau, C, Naudion, S, Michaud, V, Arveiler, B, Trimouille, A, Macé, P, Sigaudy, S, Glazunova, O, Torrents, J, Raymond, L, Saint-Frison, M-H, Attié-Bitach, T, Lefebvre, M, Capri, Y, Bourgon, N, Thauvin-Robinet, C, Tran Mau-Them, F, Bruel, A-L, Vitobello, A, Denommé-Pichon, A-S, Faivre, L, Brehin, A-C, Goldenberg, A, Patrier-Sallebert, S, Perani, A, Dauriat, B, Bourthoumieu, S, Yardin, C, Marquet, V, Barnique, M, Fiorenza-Gasq, M, Marey, I, Tournadre, D, Doumit, R, Nugues, F, Barakat, T S, Bustos, F, Jaillard, S, Launay, E, Pasquier, L & Odent, S 2024, 'Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS) : new insights from the fetal perspective', Journal of medical genetics, vol. 61, no. 9, jmg-2024-109854, pp. 824-832. |
| Publisher Information: | 2024-08-29 |
| Document Type: | Electronic Resource |
| Abstract: | INTRODUCTION: Tonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple congenital anomaly disorder caused by RLIM variations. Of the 41 patients reported, only 7 antenatal cases were described.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. |
| Index Terms: | info:eu-repo/semantics/article; info:eu-repo/semantics/publishedVersion |
| URL: | https://pure.eur.nl/en/publications/3f5dfc1c-7c5f-4ee0-b692-971ac9a550cb; info:eu-repo/semantics/altIdentifier/doi/10.1136/jmg-2024-109854; info:eu-repo/semantics/altIdentifier/pmid/38849204; info:eu-repo/semantics/altIdentifier/pissn/0022-2593; info:eu-repo/semantics/altIdentifier/eissn/1468-6244 |
| Availability: | Open access content. Open access content; info:eu-repo/semantics/openAccess; http://creativecommons.org/licenses/by/4.0 |
| Note: | application/pdf; English |
| Other Numbers: | QGQ oai:pure.eur.nl:publications/3f5dfc1c-7c5f-4ee0-b692-971ac9a550cb; https://pure.eur.nl/en/publications/3f5dfc1c-7c5f-4ee0-b692-971ac9a550cb; https://doi.org/10.1136/jmg-2024-109854; https://pure.eur.nl/ws/files/154582683/Extending_the_clinical_spectrum_of_X-linked_Tonne-Kalscheuer_syndrome_TOKAS_.pdf; https://www.scopus.com/pages/publications/85196265159; 1452810873 |
| Contributing Source: | ERASMUS UNIVERSITEIT ROTTERDAM; From OAIster®, provided by the OCLC Cooperative. |
| Accession Number: | edsoai.on1452810873 |
| Database: | OAIster |