{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Haghshenas S"],"funding":["Ministero della Salute","Janivo Foundation","Children's Hospital Foundation","Government of Canada","NIHR Manchester Biomedical Research Centre","Children’s Hospital Foundation","Genome Canada","Ontario Genomics Institute"],"pagination":["100287"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11040166"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["5(3)"],"pubmed_abstract":["CREB-binding protein (CBP, encoded by CREBBP) and its paralog E1A-associated protein (p300, encoded by EP300) are involved in histone acetylation and transcriptional regulation. Variants that produce a null allele or disrupt the catalytic domain of either protein cause Rubinstein-Taybi syndrome (RSTS), while pathogenic missense and in-frame indel variants in parts of exons 30 and 31 cause phenotypes recently described as Menke-Hennekam syndrome (MKHK). To distinguish MKHK subtypes and define their characteristics, molecular and extended clinical data on 82 individuals (54 unpublished) with variants affecting CBP (n = 71) or p300 (n = 11) (NP_004371.2 residues 1,705-1,875 and NP_001420.2 residues 1,668-1,833, respectively) were summarized. Additionally, genome-wide DNA methylation profiles "],"journal":["HGG advances"],"pubmed_title":["Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles."],"pmcid":["PMC11040166"],"funding_grant_id":["2018241","WAR2018-05","OGI-188","02C502_2005","NIHR203308"],"pubmed_authors":["Clayton-Smith J","Patterson J","Lin R","Kant SG","Merla G","Hufnagel SB","Cueto Gonzalez AM","Sluga A","Russo RS","Santos-Simarro F","O'Brien A","Garcia-Minaur S","Verbeek N","Hurst ACE","Garavelli L","Schultz-Rogers L","Kois C","Saitta SC","White SM","Sadikovic B","van den Elzen APM","Pes V","Bedoukian E","Llano-Rivas I","Horn D","Prijoles EJ","Lynch SA","Fergelot P","Klee EW","Leon E","Lacombe D","Potocki L","Persani L","MKHK Research Consortium","Fisher L","Crisponi L","Bhai P","The Ddd Study","Kaiser FJ","Garrido ED","Melis D","McConkey H","Faivre L","Shashi V","Gerkes EH","Menke LA","Schijns JM","Jenkins ZA","Banka S","Santen GWE","Tartaglia M","Devriendt K","Haghshenas S","Merati E","Gardeitchik T","Lauffer P","Sotgiu S","Newbury-Ecob R","Suri M","Levy MA","Simpson BN","Ilencikova D","Angius A","Houge G","Julia S","Xiao B","Schaefer E","Bhambhani V","Maas SM","Terhal P","Rake JP","Alders M","Kinning E","Parenti I","Galazzi E","Rutz A","Robertson SP","Giltay JC","de Waard V","Rea G","Ehmke N","Maitz SB","Foster A","Sun Y","Prasad C","Tully I","Friedman J","Wenzel M","Baker JA","Kerkhof J","Bout HJ","Ragge NK","van Eerde A","Park SM","Williams EM","Lebrun M","Kovacevic M","van Ravenswaaij-Arts CMA","Peeters H","Garcia AG","Martinez-Monseny AF","McKee S","Lanpher B","Steichen-Gersdorf E","Halliday BJ","Persico I","Sullivan JA","Potjer T","van Gils J","Witteveen L","Tedder M","Lichty AW","Ruivenkamp C","Pollazzon M","Huisman SA","Pottinger C","Monteiro FP","Brady AF","Heimdal KR","Petit F","Gabau E","Bodamer O","Nizon M","Flores-Daboub JA","Lachmeijer AMAG"],"additional_accession":[]},"is_claimable":false,"name":"Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.","description":"CREB-binding protein (CBP, encoded by CREBBP) and its paralog E1A-associated protein (p300, encoded by EP300) are involved in histone acetylation and transcriptional regulation. Variants that produce a null allele or disrupt the catalytic domain of either protein cause Rubinstein-Taybi syndrome (RSTS), while pathogenic missense and in-frame indel variants in parts of exons 30 and 31 cause phenotypes recently described as Menke-Hennekam syndrome (MKHK). To distinguish MKHK subtypes and define their characteristics, molecular and extended clinical data on 82 individuals (54 unpublished) with variants affecting CBP (n = 71) or p300 (n = 11) (NP_004371.2 residues 1,705-1,875 and NP_001420.2 residues 1,668-1,833, respectively) were summarized. Additionally, genome-wide DNA methylation profiles ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jul","modification":"2026-06-02T01:43:04.512Z","creation":"2026-04-13T03:12:20.882Z"},"accession":"S-EPMC11040166","cross_references":{"pubmed":["38553851"],"doi":["10.1016/j.xhgg.2024.100287"]}}