{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T21:01:14Z","timestamp":1774645274691,"version":"3.50.1"},"reference-count":23,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"ANIA Foundation","award":["21.31."],"award-info":[{"award-number":["21.31."]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>As a consequence of the implementation of NGS technologies, the diagnostic yield of neurodevelopmental disorders has dramatically increased during the past two decades. Among neurodevelopmental genes, transcription-related genes and chromatin remodeling genes are the most represented category of disease-causing genes. Indeed, the term \u201cchromatinopathies\u201d is now widely used to describe epigenetic disorders caused by mutations in these genes. We hereby describe a twenty-seven-year-old female patient diagnosed with moderate intellectual disability comorbid with other neuropsychiatric and behavioral issues carrying a de novo heterozygous stop variant in the KDM5C gene (NM_004187.5: c. 3847G&gt;T, p.Glu1283*), encoding a histone demethylase that specifically acts on the H3K4 lysines. The gene is located on the X chromosome and has been associated with Claes\u2013Jensen-type intellectual disability, an X-linked syndromic disorder. We discuss our case in relation to previously reported affected females harboring pathogenic mutations in the KDM5C gene with the objective of delineating genotype\u2013phenotype correlations and further defining a common recognizable phenotype. We also highlight the importance of reverse phenotyping in relation to whole-exome sequencing results.<\/jats:p>","DOI":"10.3390\/genes13122266","type":"journal-article","created":{"date-parts":[[2022,12,2]],"date-time":"2022-12-02T02:18:06Z","timestamp":1669947486000},"page":"2266","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype\u2013Phenotype Correlations"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1209-8554","authenticated-orcid":false,"given":"Carla","family":"Lintas","sequence":"first","affiliation":[{"name":"Research Unit of Medical Genetics, Department of Medicine, Universit\u00e0 Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, Italy"},{"name":"Operative Research Unit of Medical Genetics, Fondazione Policlinico Universitario Campus Bio-Medico, Via Alvaro del Portillo 200, 00128 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0396-7981","authenticated-orcid":false,"given":"Irene","family":"Bottillo","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Sacco","sequence":"additional","affiliation":[{"name":"Research Unit of Medical Genetics, Department of Medicine, Universit\u00e0 Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, Italy"},{"name":"Operative Research Unit of Medical Genetics, Fondazione Policlinico Universitario Campus Bio-Medico, Via Alvaro del Portillo 200, 00128 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3639-6687","authenticated-orcid":false,"given":"Alessia","family":"Azzar\u00e0","sequence":"additional","affiliation":[{"name":"Research Unit of Medical Genetics, Department of Medicine, Universit\u00e0 Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9424-4249","authenticated-orcid":false,"given":"Ilaria","family":"Cassano","sequence":"additional","affiliation":[{"name":"Research Unit of Medical Genetics, Department of Medicine, Universit\u00e0 Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Pia","family":"Ciccone","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Grammatico","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fiorella","family":"Gurrieri","sequence":"additional","affiliation":[{"name":"Research Unit of Medical Genetics, Department of Medicine, Universit\u00e0 Campus Bio-Medico di Roma, Via Alvaro del Portillo 21, 00128 Rome, Italy"},{"name":"Operative Research Unit of Medical Genetics, Fondazione Policlinico Universitario Campus Bio-Medico, Via Alvaro del Portillo 200, 00128 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2951","DOI":"10.1002\/ajmg.a.62381","article-title":"Caregiver-reported characteristics of children diagnosed with pathogenic variants in KDM5C","volume":"185","author":"Hatch","year":"2021","journal-title":"Am. 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