{"id":648,"date":"2014-04-07T18:42:54","date_gmt":"2014-04-07T18:42:54","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=648"},"modified":"2026-02-25T19:47:45","modified_gmt":"2026-02-25T19:47:45","slug":"adap2-in-heart-development-a-candidate-gene-for-the-occurrence-of-cardiovascular-malformations-in-nf1-microdeletion-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2014\/04\/07\/adap2-in-heart-development-a-candidate-gene-for-the-occurrence-of-cardiovascular-malformations-in-nf1-microdeletion-syndrome\/","title":{"rendered":"ADAP2 in heart development: a candidate gene for the occurrence of Cardiovascular Malformations in NF1 Microdeletion Syndrome (Contributed by Dr. Marco Venturin)"},"content":{"rendered":"<p>The NF1 microdeletion syndrome is caused by the deletion of a chromosome 17 region encompassing the <i>NF1<\/i> gene and flanking genes. We previously found that the patients with the syndrome display a significantly higher incidence of Cardiovascular Malformations (CVMs) than that observed in the NF1 patients with intragenic mutations, suggesting that genes present in the deleted segment are essential for normal heart development.<\/p>\n<p>Here we showed that one of these genes, <i>ADAP2<\/i>, is expressed in heart during fundamental phases of cardiac development. The functional inactivation of <i>ADAP2 <\/i>in zebrafish demonstrated its important role in heart development and pointed to <i>ADAP2<\/i> as the best candidate gene for the occurrence of CVMs in NF1-microdeleted patients. Our study constitutes a step towards a better comprehension of the complex phenotypic spectrum of the syndrome. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2014\/04\/07\/jmedgenet-2013-102240\">http:\/\/jmg.bmj.com\/content\/early\/2014\/04\/07\/jmedgenet-2013-102240<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>The NF1 microdeletion syndrome is caused by the deletion of a chromosome 17 region encompassing the NF1 gene and flanking genes. We previously found that the patients with the syndrome display a significantly higher incidence of Cardiovascular Malformations (CVMs) than that observed in the NF1 patients with intragenic mutations, suggesting that genes present in the [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2014\/04\/07\/adap2-in-heart-development-a-candidate-gene-for-the-occurrence-of-cardiovascular-malformations-in-nf1-microdeletion-syndrome\/\">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-648","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>ADAP2 in heart development: a candidate gene for the occurrence of Cardiovascular Malformations in NF1 Microdeletion Syndrome (Contributed by Dr. Marco Venturin) - 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\/2014\/04\/07\/adap2-in-heart-development-a-candidate-gene-for-the-occurrence-of-cardiovascular-malformations-in-nf1-microdeletion-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ADAP2 in heart development: a candidate gene for the occurrence of Cardiovascular Malformations in NF1 Microdeletion Syndrome (Contributed by Dr. Marco Venturin) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"The NF1 microdeletion syndrome is caused by the deletion of a chromosome 17 region encompassing the NF1 gene and flanking genes. We previously found that the patients with the syndrome display a significantly higher incidence of Cardiovascular Malformations (CVMs) than that observed in the NF1 patients with intragenic mutations, suggesting that genes present in the [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2014\/04\/07\/adap2-in-heart-development-a-candidate-gene-for-the-occurrence-of-cardiovascular-malformations-in-nf1-microdeletion-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2014-04-07T18:42:54+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T19:47:45+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\\\/2014\\\/04\\\/07\\\/adap2-in-heart-development-a-candidate-gene-for-the-occurrence-of-cardiovascular-malformations-in-nf1-microdeletion-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/04\\\/07\\\/adap2-in-heart-development-a-candidate-gene-for-the-occurrence-of-cardiovascular-malformations-in-nf1-microdeletion-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"ADAP2 in heart development: a candidate gene for the occurrence of Cardiovascular Malformations in NF1 Microdeletion Syndrome (Contributed by Dr. Marco Venturin)\",\"datePublished\":\"2014-04-07T18:42:54+00:00\",\"dateModified\":\"2026-02-25T19:47:45+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/04\\\/07\\\/adap2-in-heart-development-a-candidate-gene-for-the-occurrence-of-cardiovascular-malformations-in-nf1-microdeletion-syndrome\\\/\"},\"wordCount\":160,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/04\\\/07\\\/adap2-in-heart-development-a-candidate-gene-for-the-occurrence-of-cardiovascular-malformations-in-nf1-microdeletion-syndrome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/04\\\/07\\\/adap2-in-heart-development-a-candidate-gene-for-the-occurrence-of-cardiovascular-malformations-in-nf1-microdeletion-syndrome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/04\\\/07\\\/adap2-in-heart-development-a-candidate-gene-for-the-occurrence-of-cardiovascular-malformations-in-nf1-microdeletion-syndrome\\\/\",\"name\":\"ADAP2 in heart development: a candidate gene for the occurrence of Cardiovascular Malformations in NF1 Microdeletion Syndrome (Contributed by Dr. Marco Venturin) - 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