{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T08:26:17Z","timestamp":1787300777836,"version":"build-2736575974"},"reference-count":17,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:00:00Z","timestamp":1787011200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"abstract":"<jats:p>\n                    Menke-Hennekam syndrome types 1 and 2 (MKHK1 and MKHK2) are autosomal dominant neurodevelopmental disorders characterized by psychomotor developmental delay, intellectual disability, and dysmorphic features. MKHK1 is caused by heterozygous variants in exons 30-31 of the\n                    <jats:italic toggle=\"yes\">CREBBP<\/jats:italic>\n                    gene, whereas MKHK2 results from heterozygous variants in\n                    <jats:italic toggle=\"yes\">EP300<\/jats:italic>\n                    . Although these genes are classically associated with Rubinstein-Taybi syndrome (RTS), Menke-Hennekam syndrome presents a distinct phenotype despite involvement of the same alleles. We report 2 patients who exhibited developmental delay, intellectual disability, and dysmorphic features without typical RTS findings. Genetic analysis revealed a novel frameshift variant in\n                    <jats:italic toggle=\"yes\">EP300<\/jats:italic>\n                    in one patient and a de novo missense variant in\n                    <jats:italic toggle=\"yes\">CREBBP<\/jats:italic>\n                    in the other. Long-term follow-up and increasing use of whole-exome sequencing have facilitated recognition of Menke-Hennekam syndrome as a distinct clinical entity. Reporting 2 patients with exon 31 variants in\n                    <jats:italic toggle=\"yes\">CREBBP<\/jats:italic>\n                    and\n                    <jats:italic toggle=\"yes\">EP300<\/jats:italic>\n                    , we aim to improve awareness and diagnostic accuracy of this rare disorder.\n                  <\/jats:p>","DOI":"10.1177\/08830738261474118","type":"journal-article","created":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T17:57:19Z","timestamp":1787075839000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Distinct Clinical Presentations of Menke-Hennekam Syndrome: Insights From\n                    <i>CREBBP<\/i>\n                    and\n                    <i>EP300<\/i>\n                    Variants"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-5360-0219","authenticated-orcid":false,"given":"Serap","family":"Ketenci \u0130\u015flek","sequence":"first","affiliation":[{"name":"Hacettepe University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9928-3236","authenticated-orcid":false,"given":"Gizem","family":"\u00dcrel Demir","sequence":"additional","affiliation":[{"name":"Hacettepe University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6577-5542","authenticated-orcid":false,"given":"G\u00fclen Eda","family":"Utine","sequence":"additional","affiliation":[{"name":"Hacettepe University"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-7766","authenticated-orcid":false,"given":"Pelin \u00d6zlem","family":"\u015eim\u015fek Kiper","sequence":"additional","affiliation":[{"name":"Hacettepe University"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,8,18]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2219"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38626"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37800"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61131"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg-2023-109438"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.3390\/children9050759"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61052"},{"issue":"3","key":"e_1_3_3_9_2","article-title":"Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles","volume":"5","author":"Haghshenas S","year":"2024","unstructured":"Haghshenas S, Bout HJ, Schijns JM, et al. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles. HGG Adv. 2024;5(3):100287.","journal-title":"HGG Adv"},{"issue":"1","key":"e_1_3_3_10_2","article-title":"Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders","volume":"3","author":"Levy MA","year":"2022","unstructured":"Levy MA, McConkey H, Kerkhof J, et al. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. HGG Adv. 2022;3(1):100075.","journal-title":"HGG Adv"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62533"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61883"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.177"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201791"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000143"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-018-4348-8"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12070-023-03565-z"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738261474118","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/08830738261474118","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738261474118","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T08:09:34Z","timestamp":1787299774000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738261474118"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,18]]},"references-count":17,"alternative-id":["10.1177\/08830738261474118"],"URL":"https:\/\/doi.org\/10.1177\/08830738261474118","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,18]]},"article-number":"08830738261474118"}}