{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T20:44:37Z","timestamp":1793133877585,"version":"4.5.0"},"reference-count":26,"publisher":"BMJ","issue":"9","license":[{"start":{"date-parts":[[2024,6,7]],"date-time":"2024-06-07T00:00:00Z","timestamp":1717718400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001826","name":"ZonMw","doi-asserted-by":"publisher","award":["09150172110002"],"award-info":[{"award-number":["09150172110002"]}],"id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2024,5,19]]},"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:sec>\n                  <jats:title>Introduction<\/jats:title>\n                  <jats:p>Tonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple congenital anomaly disorder caused by <jats:italic>RLIM<\/jats:italic> variations. Of the 41 patients reported, only 7 antenatal cases were described.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Method<\/jats:title>\n                  <jats:p>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congenital anomalies in five male fetuses, a call for collaboration was made, resulting in a cohort of 11 previously unpublished cases.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>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\u2013phenotype 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 <jats:italic>RLIM<\/jats:italic>, outside of the two previously known mutational hotspots.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>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.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2024-109854","type":"journal-article","created":{"date-parts":[[2024,6,7]],"date-time":"2024-06-07T13:27:03Z","timestamp":1717766823000},"page":"824-832","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective"],"prefix":"10.1136","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0763-5661","authenticated-orcid":false,"given":"Silvestre","family":"Cuinat","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique, CRMR anomalies du d\u00e9veloppement CLAD-Ouest, CHU Rennes, Rennes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chlo\u00e9","family":"Qu\u00e9lin","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique, CRMR anomalies du d\u00e9veloppement CLAD-Ouest, CHU Rennes, Rennes, France"},{"name":"Service d'Anatomie et Cytologie Pathologiques, H\u00f4pital Pontchaillou, CHU Rennes, Rennes, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Effray","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Clinique, CRMR anomalies du d\u00e9veloppement CLAD-Ouest, CHU Rennes, Rennes, 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