{"id":1025,"date":"2017-08-28T18:32:06","date_gmt":"2017-08-28T18:32:06","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1025"},"modified":"2026-02-24T21:00:20","modified_gmt":"2026-02-24T21:00:20","slug":"ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\/","title":{"rendered":"CTCF deletion syndrome: clinical features and epigenetic delineation (Contributed by Drs. Ikumi Hori and Shinji Saitoh)"},"content":{"rendered":"<p>CTCF has multiple function in epigenetics including X-chromosome inactivation, genomic imprinting and genome organization. Mutations in <em>CTCF<\/em> are known to cause intellectual disability, however mechanism underlying the disease remains unknown. In this study, we reported two patients with a deletion including <em>CTCF<\/em> and proposed <em>CTCF<\/em> deletion syndrome because they showed distinct clinical characteristics icluding intellectual disability. Surprisingly, X-chromosome inactivation and DNA methylation at imprinted loci were normal, while genome-wide DNA hypermethylation only at CTCF binding sites were demonstrated and two candidate genes, <em>PRKCZ<\/em> and <em>FGFR2<\/em>, were identified, suggesting the underlying mechanism of the syndrome. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2017\/08\/28\/jmedgenet-2017-104854\">http:\/\/jmg.bmj.com\/content\/early\/2017\/08\/28\/jmedgenet-2017-104854<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>CTCF has multiple function in epigenetics including X-chromosome inactivation, genomic imprinting and genome organization. Mutations in CTCF are known to cause intellectual disability, however mechanism underlying the disease remains unknown. In this study, we reported two patients with a deletion including CTCF and proposed CTCF deletion syndrome because they showed distinct clinical characteristics icluding intellectual [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1025","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>CTCF deletion syndrome: clinical features and epigenetic delineation (Contributed by Drs. Ikumi Hori and Shinji Saitoh) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"CTCF deletion syndrome: clinical features and epigenetic delineation (Contributed by Drs. Ikumi Hori and Shinji Saitoh) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"CTCF has multiple function in epigenetics including X-chromosome inactivation, genomic imprinting and genome organization. Mutations in CTCF are known to cause intellectual disability, however mechanism underlying the disease remains unknown. In this study, we reported two patients with a deletion including CTCF and proposed CTCF deletion syndrome because they showed distinct clinical characteristics icluding intellectual [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2017-08-28T18:32:06+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T21:00:20+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/28\\\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/28\\\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"CTCF deletion syndrome: clinical features and epigenetic delineation (Contributed by Drs. Ikumi Hori and Shinji Saitoh)\",\"datePublished\":\"2017-08-28T18:32:06+00:00\",\"dateModified\":\"2026-02-24T21:00:20+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/28\\\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\\\/\"},\"wordCount\":118,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/28\\\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/28\\\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/28\\\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\\\/\",\"name\":\"CTCF deletion syndrome: clinical features and epigenetic delineation (Contributed by Drs. Ikumi Hori and Shinji Saitoh) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2017-08-28T18:32:06+00:00\",\"dateModified\":\"2026-02-24T21:00:20+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/28\\\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/28\\\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/28\\\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"CTCF deletion syndrome: clinical features and epigenetic delineation (Contributed by Drs. Ikumi Hori and Shinji Saitoh)\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"name\":\"JMG Contact blog\",\"description\":\"JMG Contact blog\",\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\",\"name\":\"JMG Contact blog\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"width\":300,\"height\":34,\"caption\":\"JMG Contact blog\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\",\"name\":\"hqqu\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"caption\":\"hqqu\"},\"description\":\"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"CTCF deletion syndrome: clinical features and epigenetic delineation (Contributed by Drs. Ikumi Hori and Shinji Saitoh) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\/","og_locale":"en_US","og_type":"article","og_title":"CTCF deletion syndrome: clinical features and epigenetic delineation (Contributed by Drs. Ikumi Hori and Shinji Saitoh) - JMG Contact blog","og_description":"CTCF has multiple function in epigenetics including X-chromosome inactivation, genomic imprinting and genome organization. Mutations in CTCF are known to cause intellectual disability, however mechanism underlying the disease remains unknown. In this study, we reported two patients with a deletion including CTCF and proposed CTCF deletion syndrome because they showed distinct clinical characteristics icluding intellectual [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\/","og_site_name":"JMG Contact blog","article_published_time":"2017-08-28T18:32:06+00:00","article_modified_time":"2026-02-24T21:00:20+00:00","author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"CTCF deletion syndrome: clinical features and epigenetic delineation (Contributed by Drs. Ikumi Hori and Shinji Saitoh)","datePublished":"2017-08-28T18:32:06+00:00","dateModified":"2026-02-24T21:00:20+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\/"},"wordCount":118,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\/","url":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\/","name":"CTCF deletion syndrome: clinical features and epigenetic delineation (Contributed by Drs. Ikumi Hori and Shinji Saitoh) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2017-08-28T18:32:06+00:00","dateModified":"2026-02-24T21:00:20+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/28\/ctcf-deletion-syndrome-clinical-features-and-epigenetic-delineation\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"CTCF deletion syndrome: clinical features and epigenetic delineation (Contributed by Drs. Ikumi Hori and Shinji Saitoh)"}]},{"@type":"WebSite","@id":"https:\/\/blogs.bmj.com\/jmg\/#website","url":"https:\/\/blogs.bmj.com\/jmg\/","name":"JMG Contact blog","description":"JMG Contact blog","publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/blogs.bmj.com\/jmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/blogs.bmj.com\/jmg\/#organization","name":"JMG Contact blog","url":"https:\/\/blogs.bmj.com\/jmg\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","width":300,"height":34,"caption":"JMG Contact blog"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b","name":"hqqu","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","caption":"hqqu"},"description":"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.","sameAs":["https:\/\/x.com\/HuiQiQu"],"url":"https:\/\/blogs.bmj.com\/jmg\/author\/hqiqu\/"}]}},"_links":{"self":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1025","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/123"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=1025"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1025\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=1025"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=1025"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=1025"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}