{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T04:50:25Z","timestamp":1791003025344,"version":"4.1.0"},"reference-count":41,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,5,29]],"date-time":"2020-05-29T00:00:00Z","timestamp":1590710400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008762","name":"Genome Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008762","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002924","name":"Federaci\u00f3n Espa\u00f1ola de Enfermedades Raras","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002924","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    X\u2010linked intellectual disability (XLID) is a genetically heterogeneous condition involving more than 100 genes. To date, 35 pathogenic variants have been reported in the lysine specific demethylase 5C (\n                    <jats:italic>KDM5C<\/jats:italic>\n                    ) gene.\n                    <jats:italic>KDM5C<\/jats:italic>\n                    variants are one of the major causes of moderate to severe XLID. Affected males present with short stature, distinctive facial features, behavioral disorders, epilepsy, and spasticity. For most of these variants, related female carriers have been reported, but phenotypic descriptions were poor. Here, we present clinical and molecular features of 19 females carrying 10 novel heterozygous variants affecting\n                    <jats:italic>KDM5C<\/jats:italic>\n                    function, including five probands with de novo variants. Four heterozygous females were asymptomatic. All affected individuals presented with learning disabilities or ID (mostly moderate), and four also had a language impairment mainly affecting expression. Behavioral disturbances were frequent, and endocrine disorders were more frequent in females. In conclusion, our findings provide evidence of the role of\n                    <jats:italic>KDM5C<\/jats:italic>\n                    in ID in females highlighting the increasing implication of XLID genes in females, even in sporadic affected individuals. Disease expression of XLID in females should be taken into consideration for genetic counseling.\n                  <\/jats:p>","DOI":"10.1111\/cge.13755","type":"journal-article","created":{"date-parts":[[2020,4,12]],"date-time":"2020-04-12T00:24:52Z","timestamp":1586651092000},"page":"43-55","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":46,"title":["Further delineation of the female phenotype with\n                    <scp>\n                      <i>KDM5C<\/i>\n                    <\/scp>\n                    disease causing variants: 19 new individuals and review of the literature"],"prefix":"10.1111","volume":"98","author":[{"given":"Virginie","family":"Carmignac","sequence":"first","affiliation":[{"name":"INSERM UMR1231, Equipe G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement Universit\u00e9 de Bourgogne  Dijon France"},{"name":"Centre de R\u00e9f\u00e9rence Maladies G\u00e9n\u00e9tique \u00e0 Expression Cutan\u00e9e Centre Hospitalier Universitaire Dijon Bourgogne  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9630-5049","authenticated-orcid":false,"given":"Sophie","family":"Nambot","sequence":"additional","affiliation":[{"name":"INSERM UMR1231, Equipe G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement Universit\u00e9 de Bourgogne  Dijon France"},{"name":"Centre de G\u00e9n\u00e9tique et Centre de r\u00e9f\u00e9rence \u00ab Anomalies du D\u00e9veloppement et Syndromes Malformatifs \u00bb, H\u00f4pital d'Enfants Centre Hospitalier Universitaire Dijon Bourgogne  Dijon France"},{"name":"Unit\u00e9 Fonctionnelle \u00ab Diagnostic en innovation g\u00e9nomique des maladies rares \u00bb Laboratoire de G\u00e9n\u00e9tique Chromosomique et Mol\u00e9culaire, Plateau Technique de Biologie Centre Hospitalier Universitaire Dijon Bourgogne  Dijon France"},{"name":"F\u00e9d\u00e9ration Hospitalo\u2010Universitaire M\u00e9decine Translationnelle et Anomalies du D\u00e9veloppement (FHU TRANSLAD) Centre Hospitalier Universitaire de Dijon et Universit\u00e9 de Bourgogne\u2010Franche Comt\u00e9  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daphn\u00e9","family":"Lehalle","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de r\u00e9f\u00e9rence \u00ab Anomalies du D\u00e9veloppement et Syndromes Malformatifs \u00bb, H\u00f4pital d'Enfants Centre Hospitalier Universitaire Dijon Bourgogne  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Callier","sequence":"additional","affiliation":[{"name":"INSERM UMR1231, Equipe G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement Universit\u00e9 de Bourgogne  Dijon France"},{"name":"Unit\u00e9 Fonctionnelle \u00ab Diagnostic en innovation g\u00e9nomique des maladies rares \u00bb Laboratoire de G\u00e9n\u00e9tique Chromosomique et Mol\u00e9culaire, Plateau Technique de Biologie Centre Hospitalier Universitaire Dijon Bourgogne  Dijon France"},{"name":"F\u00e9d\u00e9ration Hospitalo\u2010Universitaire M\u00e9decine Translationnelle et Anomalies du D\u00e9veloppement (FHU TRANSLAD) Centre Hospitalier Universitaire de Dijon et Universit\u00e9 de Bourgogne\u2010Franche Comt\u00e9  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Moortgat","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Institut de Pathologie et de G\u00e9n\u00e9tique  Charleroi Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Benoit","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Institut de Pathologie et de G\u00e9n\u00e9tique  Charleroi Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamal","family":"Ghoumid","sequence":"additional","affiliation":[{"name":"CHU Lille, Clinique 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