{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T14:31:36Z","timestamp":1787754696404,"version":"build-2784847793"},"reference-count":36,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,3,20]],"date-time":"2019-03-20T00:00:00Z","timestamp":1553040000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81873633"],"award-info":[{"award-number":["81873633"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p>CCCTC\u2010binding factor (CTCF) is an important regulator for global genomic organization and gene expression. <jats:italic>CTCF<\/jats:italic> gene had been implicated in a novel disorder characterized by intellectual disability, feeding difficulty, developmental delay and microcephaly. So far, four patients have been reported with de novo <jats:italic>CTCF<\/jats:italic> mutations. We reported three additional Chinese patients with de novo variants in <jats:italic>CTCF<\/jats:italic>. The new evidence helped to establish the clinical validity between <jats:italic>CTCF<\/jats:italic> and the emerging disorder. We described the consistent phenotypes shared by all patients and revealed additional clinical features such as delayed or abnormal teeth development and a unique pattern of the eyebrow that may help to define a potential recognizable neurodevelopmental disorder. We also reported the first <jats:italic>CTCF<\/jats:italic> patient treated with recombinant human growth hormone. Follow\u2010up and more case studies will further our understanding to the clinical presentations of this novel disorder and the prognosis of patients with this disorder.<\/jats:p>","DOI":"10.1002\/ajmg.c.31698","type":"journal-article","created":{"date-parts":[[2019,3,20]],"date-time":"2019-03-20T18:21:18Z","timestamp":1553106078000},"page":"218-225","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Three additional de novo <i>CTCF<\/i> mutations in Chinese patients help to define an emerging neurodevelopmental disorder"],"prefix":"10.1002","volume":"181","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2413-214X","authenticated-orcid":false,"given":"Fei","family":"Chen","sequence":"first","affiliation":[{"name":"Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region  Nanning China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haiming","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Dongguan Maternal and Child Health Care Hospital  Dongguan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenyong","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Fuzhou Children's Hospital of Fujian Province, Fujian Medical University Teaching Hospital  Fuzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaoke","family":"Chen","sequence":"additional","affiliation":[{"name":"Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region  Nanning China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi","family":"Yang","sequence":"additional","affiliation":[{"name":"Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region  Nanning China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Wang","sequence":"additional","affiliation":[{"name":"Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region  Nanning China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Zhang","sequence":"additional","affiliation":[{"name":"Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region  Nanning China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baohen","family":"Gui","sequence":"additional","affiliation":[{"name":"Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region  Nanning China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Fan","sequence":"additional","affiliation":[{"name":"Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region  Nanning China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruimin","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Fuzhou Children's Hospital of Fujian Province, Fujian Medical University Teaching Hospital  Fuzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiping","family":"Shen","sequence":"additional","affiliation":[{"name":"Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute Maternal and Child Health Hospital, Children's Hospital of Guangxi Zhuang Autonomous Region  Nanning China"},{"name":"Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center Shanghai Jiao Tong University School of Medicine  Shanghai China"},{"name":"Division of Genetics and Genomics Boston Children's Hospital  Boston Massachusetts"},{"name":"Department of Neurology Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,3,20]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.1302750"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms19123832"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/19491034.2016.1276145"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-03614-0"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-017-0429-0"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.149427"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13000-015-0438-2"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI80937"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2015.09.023"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.16.6.2802"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1095\/biolreprod.114.122945"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.007"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.24798"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1098\/rstb.2012.0369"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104854"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0808506106"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/emm.2015.33"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1044-579X(02)00060-3"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003601"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2018.07.021"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1080\/19491034.2017.1394536"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2199-11-101"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_6_25_1","doi-asserted-by":"crossref","first-page":"105","DOI":"10.12688\/wellcomeopenres.14741.2","article-title":"Epigenetic changes around the pX region and spontaneous HTLV\u20101 transcription are CTCF\u2010independent","volume":"3","author":"Miura M.","year":"2018","journal-title":"Wellcome Open Research"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2017.05.004"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0801273105"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1423199113"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40659-015-0019-6"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2407-12-40"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23014"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.3769-13.2014"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0010119"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0701811104"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.10684"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1186\/bcr774"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31698","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.c.31698","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31698","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T19:57:51Z","timestamp":1694375871000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31698"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,20]]},"references-count":36,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,6]]}},"alternative-id":["10.1002\/ajmg.c.31698"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31698","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,3,20]]},"assertion":[{"value":"2019-01-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-03-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-03-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}