{"id":1305,"date":"2019-07-17T22:20:11","date_gmt":"2019-07-17T22:20:11","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1305"},"modified":"2026-02-24T00:36:03","modified_gmt":"2026-02-24T00:36:03","slug":"rasa1-mosaic-mutations-in-patients-with-capillary-malformation-arteriovenous-malformation","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/rasa1-mosaic-mutations-in-patients-with-capillary-malformation-arteriovenous-malformation\/","title":{"rendered":"RASA1 mosaic mutations in patients with capillary malformation \u2013 arteriovenous malformation (Contributed by Dr. Nicole Revencu)"},"content":{"rendered":"<p>Capillary malformation \u2013 arteriovenous malformation is an autosomal dominant disorder, characterised by capillary malformations and an increased risk of fast-flow lesions. It is caused by mutations in two genes: <em>RASA1<\/em> or <em>EPHB4<\/em>. Around 25% of the patients remain unexplained. In this study, we show that some of the so called \u201cnegative cases\u201d are caused by <em>mosaic<\/em> <em>RASA1<\/em> mutations. Those patients present classical phenotype, even in case of low-level mosaicism, with an increased risk to pass the mutation on to offspring. Finally, our results underscore the pathophysiological mechanism necessitating a second-hit to explain the multifocality of vascular lesions in this disorder. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2019\/07\/12\/jmedgenet-2019-106024\">https:\/\/jmg.bmj.com\/content\/early\/2019\/07\/12\/jmedgenet-2019-106024<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Capillary malformation \u2013 arteriovenous malformation is an autosomal dominant disorder, characterised by capillary malformations and an increased risk of fast-flow lesions. It is caused by mutations in two genes: RASA1 or EPHB4. Around 25% of the patients remain unexplained. In this study, we show that some of the so called \u201cnegative cases\u201d are caused by [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/rasa1-mosaic-mutations-in-patients-with-capillary-malformation-arteriovenous-malformation\/\">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-1305","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>RASA1 mosaic mutations in patients with capillary malformation \u2013 arteriovenous malformation (Contributed by Dr. Nicole Revencu) - 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\/07\/17\/rasa1-mosaic-mutations-in-patients-with-capillary-malformation-arteriovenous-malformation\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"RASA1 mosaic mutations in patients with capillary malformation \u2013 arteriovenous malformation (Contributed by Dr. Nicole Revencu) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Capillary malformation \u2013 arteriovenous malformation is an autosomal dominant disorder, characterised by capillary malformations and an increased risk of fast-flow lesions. It is caused by mutations in two genes: RASA1 or EPHB4. Around 25% of the patients remain unexplained. In this study, we show that some of the so called \u201cnegative cases\u201d are caused by [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2019\/07\/17\/rasa1-mosaic-mutations-in-patients-with-capillary-malformation-arteriovenous-malformation\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2019-07-17T22:20:11+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:36:03+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\\\/07\\\/17\\\/rasa1-mosaic-mutations-in-patients-with-capillary-malformation-arteriovenous-malformation\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/07\\\/17\\\/rasa1-mosaic-mutations-in-patients-with-capillary-malformation-arteriovenous-malformation\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"RASA1 mosaic mutations in patients with capillary malformation \u2013 arteriovenous malformation (Contributed by Dr. Nicole Revencu)\",\"datePublished\":\"2019-07-17T22:20:11+00:00\",\"dateModified\":\"2026-02-24T00:36:03+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/07\\\/17\\\/rasa1-mosaic-mutations-in-patients-with-capillary-malformation-arteriovenous-malformation\\\/\"},\"wordCount\":121,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/07\\\/17\\\/rasa1-mosaic-mutations-in-patients-with-capillary-malformation-arteriovenous-malformation\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/07\\\/17\\\/rasa1-mosaic-mutations-in-patients-with-capillary-malformation-arteriovenous-malformation\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2019\\\/07\\\/17\\\/rasa1-mosaic-mutations-in-patients-with-capillary-malformation-arteriovenous-malformation\\\/\",\"name\":\"RASA1 mosaic mutations in patients with capillary malformation \u2013 arteriovenous malformation (Contributed by Dr. Nicole Revencu) - 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