{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T05:18:48Z","timestamp":1787894328664,"version":"build-2784847793"},"reference-count":9,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T00:00:00Z","timestamp":1766966400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T00:00:00Z","timestamp":1766966400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,5]]},"abstract":"ABSTRACT<\/jats:title>\n \n The\n KDM2B<\/jats:italic>\n \u2010related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in\n KDM2B<\/jats:italic>\n . Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder. Variants in\n KDM2B<\/jats:italic>\n that primarily affect the CxxC DNA\u2010binding domain are strongly linked to a specific epigenetic signature. We present three children with\n KDM2B<\/jats:italic>\n \u2010related neurodevelopmental disorder, each with a heterozygous variant in the CxxC domain of\n KDM2B<\/jats:italic>\n . Patient 1 is a 2\u2010year\u2010old boy with developmental delay, solitary kidney, atrial septal defect, feeding difficulties, hemangiomas, and myopic astigmatism. Patient 2 is a 2\u2010year\u2010old girl with global developmental delay, hip dysplasia, feeding difficulties, hemangiomas, and myopic astigmatism. Patient 3 is a 5\u2010year\u2010old girl with autism, developmental delay, atrial septal defect, and ventricular septal defect, hypertrichosis, atopic dermatitis, and myopic astigmatism. Genetic analysis revealed a variant in\n KDM2B<\/jats:italic>\n in each patient. Targeted methylation analysis for the epigenetic signature associated with the\n KDM2B<\/jats:italic>\n \u2010related syndrome revealed an abnormal methylation pattern consistent with a positive epigenetic signature of the disorder in individuals 2 and 3. These results provided supportive functional evidence for\n KDM2B<\/jats:italic>\n \u2010related neurodevelopmental disorder in the context of the clinical findings and\n KDM2B<\/jats:italic>\n variants. Our findings emphasize the value of integrating genomic and epigenomic analyses for variant interpretation. This case series reinforces the consistent phenotype of\n KDM2B<\/jats:italic>\n \u2010related neurodevelopmental disorder and highlights ocular and dermatologic manifestations as recurring features in affected individuals.\n <\/jats:p>","DOI":"10.1002\/ajmga.70036","type":"journal-article","created":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T09:23:05Z","timestamp":1767000185000},"page":"1098-1104","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["KDM2B<\/i>\n \u2010Related Neurodevelopmental Disorder A Case\u2010Series Supporting the\n CxxC<\/scp>\n Domain Phenotype With Emphasis on Ocular and Dermatologic Features"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-3598-460X","authenticated-orcid":false,"given":"Adriana","family":"Gomes","sequence":"first","affiliation":[{"name":"Division of Genetics and Dysmorphology University of California San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-0746-1278","authenticated-orcid":false,"given":"\u00c1lvaro","family":"Mart\u00edn\u2010Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Division of Genetics and Dysmorphology University of California San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"Del Campo","sequence":"additional","affiliation":[{"name":"Division of Genetics and Dysmorphology University of California San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4833-3747","authenticated-orcid":false,"given":"Lynne M.","family":"Bird","sequence":"additional","affiliation":[{"name":"Division of Genetics and Dysmorphology University of California San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,12,29]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.190629.115"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddaa175"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev\u2010genom\u2010090613\u2010094245"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.isci.2022.103742"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010023\u201002537\u20101"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24446"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010020\u201001096\u20104"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.09.006"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddaf082"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmga.70036","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmga.70036","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmga.70036","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T04:44:16Z","timestamp":1787892256000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmga.70036"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,29]]},"references-count":9,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["10.1002\/ajmga.70036"],"URL":"https:\/\/doi.org\/10.1002\/ajmga.70036","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,29]]},"assertion":[{"value":"2025-04-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-15","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-29","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}