{"id":1437,"date":"2020-04-14T01:25:26","date_gmt":"2020-04-14T01:25:26","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1437"},"modified":"2026-02-24T00:12:02","modified_gmt":"2026-02-24T00:12:02","slug":"identification-of-known-and-unknown-genes-associated-with-mitral-valve-prolapse-using-an-exome-slice-methodology","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/04\/14\/identification-of-known-and-unknown-genes-associated-with-mitral-valve-prolapse-using-an-exome-slice-methodology\/","title":{"rendered":"Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology (Contributed by Dr. Aniek van Wijngaarden)"},"content":{"rendered":"<p>This study presents the first, large-scale exome-based analysis in patients with (familial) mitral valve prolapse (MVP). We confirmed the occurrence of variant(s) in previously reported genes and proposed possible novel candidate genes for MVP, mostly cardiomyopathy genes. Our findings support familial screening in MVP patients in order to eventually identify affected relatives at an early stage of the disease. In addition, the observed association between cardiomyopathy genes and MVP highlights the importance to screen these patients and their family for the presence of arrhythmias and disproportionate left ventricular remodeling as compared to the severity of mitral regurgitation, unraveling a possible coexistent cardiomyopathy. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/04\/09\/jmedgenet-2019-106715\">https:\/\/jmg.bmj.com\/content\/early\/2020\/04\/09\/jmedgenet-2019-106715<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/04\/14\/identification-of-known-and-unknown-genes-associated-with-mitral-valve-prolapse-using-an-exome-slice-methodology\/figure-blog-aniek-van-wijngaarden\/\" rel=\"attachment wp-att-1438\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1438\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/04\/Figure-blog-Aniek-van-Wijngaarden-300x97.jpg\" alt=\"\" width=\"300\" height=\"97\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/04\/Figure-blog-Aniek-van-Wijngaarden-300x97.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/04\/Figure-blog-Aniek-van-Wijngaarden-1024x330.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/04\/Figure-blog-Aniek-van-Wijngaarden-768x247.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/04\/Figure-blog-Aniek-van-Wijngaarden-640x206.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/04\/Figure-blog-Aniek-van-Wijngaarden.jpg 1378w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>This study presents the first, large-scale exome-based analysis in patients with (familial) mitral valve prolapse (MVP). We confirmed the occurrence of variant(s) in previously reported genes and proposed possible novel candidate genes for MVP, mostly cardiomyopathy genes. Our findings support familial screening in MVP patients in order to eventually identify affected relatives at an early [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/04\/14\/identification-of-known-and-unknown-genes-associated-with-mitral-valve-prolapse-using-an-exome-slice-methodology\/\">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-1437","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>Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology (Contributed by Dr. Aniek van Wijngaarden) - 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\/2020\/04\/14\/identification-of-known-and-unknown-genes-associated-with-mitral-valve-prolapse-using-an-exome-slice-methodology\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology (Contributed by Dr. Aniek van Wijngaarden) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"This study presents the first, large-scale exome-based analysis in patients with (familial) mitral valve prolapse (MVP). We confirmed the occurrence of variant(s) in previously reported genes and proposed possible novel candidate genes for MVP, mostly cardiomyopathy genes. Our findings support familial screening in MVP patients in order to eventually identify affected relatives at an early [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/04\/14\/identification-of-known-and-unknown-genes-associated-with-mitral-valve-prolapse-using-an-exome-slice-methodology\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-04-14T01:25:26+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:12:02+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/04\/Figure-blog-Aniek-van-Wijngaarden.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1378\" \/>\n\t<meta property=\"og:image:height\" content=\"444\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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\\\/2020\\\/04\\\/14\\\/identification-of-known-and-unknown-genes-associated-with-mitral-valve-prolapse-using-an-exome-slice-methodology\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/04\\\/14\\\/identification-of-known-and-unknown-genes-associated-with-mitral-valve-prolapse-using-an-exome-slice-methodology\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology (Contributed by Dr. Aniek van Wijngaarden)\",\"datePublished\":\"2020-04-14T01:25:26+00:00\",\"dateModified\":\"2026-02-24T00:12:02+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/04\\\/14\\\/identification-of-known-and-unknown-genes-associated-with-mitral-valve-prolapse-using-an-exome-slice-methodology\\\/\"},\"wordCount\":133,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/04\\\/14\\\/identification-of-known-and-unknown-genes-associated-with-mitral-valve-prolapse-using-an-exome-slice-methodology\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/04\\\/Figure-blog-Aniek-van-Wijngaarden-300x97.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/04\\\/14\\\/identification-of-known-and-unknown-genes-associated-with-mitral-valve-prolapse-using-an-exome-slice-methodology\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/04\\\/14\\\/identification-of-known-and-unknown-genes-associated-with-mitral-valve-prolapse-using-an-exome-slice-methodology\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/04\\\/14\\\/identification-of-known-and-unknown-genes-associated-with-mitral-valve-prolapse-using-an-exome-slice-methodology\\\/\",\"name\":\"Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology (Contributed by Dr. Aniek van Wijngaarden) - 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