{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T22:23:48Z","timestamp":1792103028251,"version":"4.4.0"},"reference-count":54,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"Natural Science Foundation of Shanghai","award":["20ZR1472700"],"award-info":[{"award-number":["20ZR1472700"]}]},{"name":"Natural Science Foundation of Shanghai","award":["22ZR1451400"],"award-info":[{"award-number":["22ZR1451400"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81873724"],"award-info":[{"award-number":["81873724"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key R&D Program of China","doi-asserted-by":"publisher","award":["2022YFC2703400"],"award-info":[{"award-number":["2022YFC2703400"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Shanghai Municipal Nature Science Foundation","award":["19ZR1442100 to BX"],"award-info":[{"award-number":["19ZR1442100 to BX"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,2,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Rubinstein-Taybi syndrome (RSTS) and Menke-Hennekam syndrome (MKHK) are two rare Mendelian disorders presented with variable degrees of intellectual disability and different facial dysmorphism. They are caused by loss-of-function (LOF) variants or missense\/inframe deletion variants in the exon 30 and 31 of the CREBBP gene respectively. This study aimed to refine the phenotype and provide characterization of genome-wide DNA methylation (DNAm) in RSTS and MKHK. We integrated and analyzed clinical data of 151 patients with RSTS and 36 patients with MKHK from this study and literatures. Meanwhile, genome-wide DNAm analysis were carried out on 51 blood samples (RSTS n\u2009=\u20099, MKHK n\u2009=\u20098, control n\u2009=\u200933), and 21 human induced pluripotent cell (hiPSC) samples (RSTS n\u2009=\u20095, MKHK n\u2009=\u20094, control n\u2009=\u200912). Phenotype analysis showed that patients with RSTS variants downstream the last 50\u00a0nt of the penultimate exon had atypical facial malformation and severer medical problems compared to the classical RSTS caused by LOF CREBBP variants. Individuals with MKHK variants in intrinsically disordered region (IDR) showed resemblant features. Meanwhile, DNAm analysis identified two specific blood DNA methylation patterns (episignatures): RSTS and MKHK_IDR compared to matched normal controls. Samples with MKHK variants outside the IDR did not obey the MKHK_IDR episignature. By interrogating DNAm in hiPSCs of patients with RSTS and MKHK, we observed differentially methylated genes play a role in embryonic development and organogenesis. In conclusion, our results suggest that phenotypic features and DNA methylation episignatures may differ for each genomic region.<\/jats:p>","DOI":"10.1093\/hmg\/ddag006","type":"journal-article","created":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T12:23:59Z","timestamp":1770035039000},"source":"Crossref","is-referenced-by-count":1,"title":["Correlations between phenotype and gene region-specific episignatures in Rubinstein-Taybi syndrome and Menke-Hennekam syndrome"],"prefix":"10.1093","volume":"35","author":[{"given":"Yanan","family":"Tang","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology\/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University , No. 1665 Kongjiang Road, Yangpu District, Shanghai 200082 ,","place":["China"]},{"name":"Shanghai Institute for Pediatric Research , No. 1665 Kongjiang Road, Yangpu District, Shanghai 200082 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,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4472-0910","authenticated-orcid":false,"given":"Yongguo","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology\/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University , No. 1665 Kongjiang Road, Yangpu District, Shanghai 200082 ,","place":["China"]},{"name":"Shanghai Institute for Pediatric Research , No. 1665 Kongjiang Road, Yangpu District, Shanghai 200082 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology\/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University , No. 1665 Kongjiang Road, Yangpu District, Shanghai 200082 ,","place":["China"]},{"name":"Shanghai Institute for Pediatric Research , No. 1665 Kongjiang Road, Yangpu District, Shanghai 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