{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T16:32:50Z","timestamp":1787243570663,"version":"build-2736575974"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,9,16]],"date-time":"2021-09-16T00:00:00Z","timestamp":1631750400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,9,16]],"date-time":"2021-09-16T00:00:00Z","timestamp":1631750400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Pathogenic variants in\n                      <jats:italic>KDM5C<\/jats:italic>\n                      are a cause of X-linked intellectual disability in males. Other features in males include short stature, dysmorphic features, seizures and spasticity. In some instances, female relatives were noted to have learning difficulties and mild intellectual disabilities, but full phenotypic descriptions were often incomplete. Recently, detailed phenotypic features of five affected females with de novo variants were described. (Clin Genet 98:43\u201355, 2020) Four individuals had a protein truncating variant and 1 individual had a missense variant. All five individuals had developmental delay\/intellectual disability and three neurological features.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      Here we report a three-year-old female with global developmental delay, hypotonia and ataxia. Through whole exome sequencing, a de novo c.1516A\u2009&gt;\u2009G (p.Met506Val) variant in\n                      <jats:italic>KDM5C<\/jats:italic>\n                      was identified. This missense variant is in the jumonji-C domain of this multi domain protein where other missense variants have been previously reported in KDM5C related disorder. The KDM5C gene is highly intolerant to functional variation which suggests its pathogenicity. The probands motor delays and language impairment is consistent with other reported female patients with de novo variants in\n                      <jats:italic>KDM5C<\/jats:italic>\n                      . However, other features reported in females (distinctive facial features, skeletal abnormalities, short stature and endocrine features) were absent. To the best of our knowledge, our proband is the first female patient reported with a diagnosis of ataxia.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This case report provides evidence for an emerging and phenotypic variability that adds to the literature of the role of\n                      <jats:italic>KDM5C<\/jats:italic>\n                      in females with neurodevelopmental disorders as well as movement disorders.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12883-021-02380-9","type":"journal-article","created":{"date-parts":[[2021,9,16]],"date-time":"2021-09-16T08:02:53Z","timestamp":1631779373000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report"],"prefix":"10.1186","volume":"21","author":[{"given":"Natalie C.","family":"Lippa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Subit","family":"Barua","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vimla","family":"Aggarwal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Pereira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6642-8902","authenticated-orcid":false,"given":"Jennifer M.","family":"Bain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,9,16]]},"reference":[{"issue":"2","key":"2380_CR1","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1086\/427563","volume":"76","author":"LR Jensen","year":"2005","unstructured":"Jensen LR, Amende M, Gurok U, Moser B, Gimmel V, Tzschach A, et al. Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet. 2005;76(2):227\u201336.","journal-title":"Am J Hum Genet"},{"issue":"5","key":"2380_CR2","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1038\/sj.ejhg.5201608","volume":"14","author":"C Santos","year":"2006","unstructured":"Santos C, Rodriguez-Revenga L, Madrigal I, Badenas C, Pineda M, Mila M. A novel mutation in JARID1C gene associated with mental retardation. Eur J Hum Genet. 2006;14(5):583\u20136.","journal-title":"Eur J Hum Genet"},{"issue":"12","key":"2380_CR3","doi-asserted-by":"publisher","first-page":"787","DOI":"10.1136\/jmg.2008.058990","volume":"45","author":"FE Abidi","year":"2008","unstructured":"Abidi FE, Holloway L, Moore CA, Weaver DD, Simensen RJ, Stevenson RE, et al. Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia. 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The study was approved by the CUIMC IRB (Protocol AAAO6702).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent to publish these findings was obtained from all participants or from a parent for participants under 18\u2009years old.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"358"}}