{"id":1377,"date":"2019-11-13T15:13:56","date_gmt":"2019-11-13T15:13:56","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1377"},"modified":"2026-02-24T00:23:05","modified_gmt":"2026-02-24T00:23:05","slug":"cornelia-de-lange-syndrome-from-molecular-diagnosis-to-therapeutic-approach","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/13\/cornelia-de-lange-syndrome-from-molecular-diagnosis-to-therapeutic-approach\/","title":{"rendered":"Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach (Contributed by Dr Antonio Musio)"},"content":{"rendered":"<p>Cornelia de Lange syndrome (CdLS) is a rare disease characterized by facial dysmorphism, pre- and postnatal growth retardation, cognitive impairment, gastrointestinal malformations, congenital heart abnormalities and limb defects. CdLS results from nucleotide changes in genes belonging to the cohesin pathway, involved in many biological processes important for cell life. CdLS cells show several dysregulated pathways, including gene transcription, RNA biogenesis, DNA repair, and oxidative stress response. The discoveries made in recent years regarding both the identification of genes responsible for CdLS and the cellular and molecular characterization of CdLS cells have opened the door to strategies aimed at establishing a therapeutic approach to CdLS. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2019\/11\/08\/jmedgenet-2019-106277\">https:\/\/jmg.bmj.com\/content\/early\/2019\/11\/08\/jmedgenet-2019-106277<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/13\/cornelia-de-lange-syndrome-from-molecular-diagnosis-to-therapeutic-approach\/figure-3-2\/\" rel=\"attachment wp-att-1378\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1378\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2019\/11\/Figure-3-300x169.jpg\" alt=\"\" width=\"300\" height=\"169\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Cornelia de Lange syndrome (CdLS) is a rare disease characterized by facial dysmorphism, pre- and postnatal growth retardation, cognitive impairment, gastrointestinal malformations, congenital heart abnormalities and limb defects. CdLS results from nucleotide changes in genes belonging to the cohesin pathway, involved in many biological processes important for cell life. CdLS cells show several dysregulated pathways, [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/13\/cornelia-de-lange-syndrome-from-molecular-diagnosis-to-therapeutic-approach\/\">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-1377","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach (Contributed by Dr Antonio Musio) - 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\/2019\/11\/13\/cornelia-de-lange-syndrome-from-molecular-diagnosis-to-therapeutic-approach\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach (Contributed by Dr Antonio Musio) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Cornelia de Lange syndrome (CdLS) is a rare disease characterized by facial dysmorphism, pre- and postnatal growth retardation, cognitive impairment, gastrointestinal malformations, congenital heart abnormalities and limb defects. CdLS results from nucleotide changes in genes belonging to the cohesin pathway, involved in many biological processes important for cell life. CdLS cells show several dysregulated pathways, [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2019\/11\/13\/cornelia-de-lange-syndrome-from-molecular-diagnosis-to-therapeutic-approach\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2019-11-13T15:13:56+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:23:05+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\\\/2019\\\/11\\\/13\\\/cornelia-de-lange-syndrome-from-molecular-diagnosis-to-therapeutic-approach\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/13\\\/cornelia-de-lange-syndrome-from-molecular-diagnosis-to-therapeutic-approach\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach (Contributed by Dr Antonio Musio)\",\"datePublished\":\"2019-11-13T15:13:56+00:00\",\"dateModified\":\"2026-02-24T00:23:05+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/13\\\/cornelia-de-lange-syndrome-from-molecular-diagnosis-to-therapeutic-approach\\\/\"},\"wordCount\":127,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/13\\\/cornelia-de-lange-syndrome-from-molecular-diagnosis-to-therapeutic-approach\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2019\\\/11\\\/Figure-3-300x169.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/13\\\/cornelia-de-lange-syndrome-from-molecular-diagnosis-to-therapeutic-approach\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/13\\\/cornelia-de-lange-syndrome-from-molecular-diagnosis-to-therapeutic-approach\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/11\\\/13\\\/cornelia-de-lange-syndrome-from-molecular-diagnosis-to-therapeutic-approach\\\/\",\"name\":\"Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach (Contributed by Dr Antonio Musio) - 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