{"id":1941,"date":"2024-03-11T13:06:19","date_gmt":"2024-03-11T13:06:19","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1941"},"modified":"2026-02-22T23:21:49","modified_gmt":"2026-02-22T23:21:49","slug":"biallelic-variants-in-plexin-b2-plxnb2-cause-amelogenesis-imperfecta-hearing-loss-and-intellectual-disability","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2024\/03\/11\/biallelic-variants-in-plexin-b2-plxnb2-cause-amelogenesis-imperfecta-hearing-loss-and-intellectual-disability\/","title":{"rendered":"Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability (Contributed by Dr Claire E L Smith)"},"content":{"rendered":"<p>Plexins are receptors for Semaphorin signalling proteins. Semaphorin-plexin signalling controls cellular interactions that are critical during development and in adult life stages. We identified biallelic variants in Plexin B2 (<em>PLXNB2<\/em>) through exome or genome sequencing in eight people from six families, each of whom have a syndromic condition including amelogenesis imperfecta and hearing loss. Intellectual disability, ocular disease, ear developmental abnormalities and lymphoedema were also reported in multiple individuals but were not universal. The variable syndromic features and the rarity of these disease causing variants may be why pathogenic variants in\u00a0<em>PLXNB2<\/em> have not been previously reported. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2024\/03\/08\/jmg-2023-109728\">https:\/\/jmg.bmj.com\/content\/early\/2024\/03\/08\/jmg-2023-109728<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/03\/11\/biallelic-variants-in-plexin-b2-plxnb2-cause-amelogenesis-imperfecta-hearing-loss-and-intellectual-disability\/untitled2\/\" rel=\"attachment wp-att-1942\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1942\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2024\/03\/Untitled2-300x219.png\" alt=\"\" width=\"300\" height=\"219\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2024\/03\/Untitled2-300x219.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/03\/Untitled2-768x561.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/03\/Untitled2-640x468.png 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2024\/03\/Untitled2.png 976w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Plexins are receptors for Semaphorin signalling proteins. Semaphorin-plexin signalling controls cellular interactions that are critical during development and in adult life stages. We identified biallelic variants in Plexin B2 (PLXNB2) through exome or genome sequencing in eight people from six families, each of whom have a syndromic condition including amelogenesis imperfecta and hearing loss. Intellectual [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/03\/11\/biallelic-variants-in-plexin-b2-plxnb2-cause-amelogenesis-imperfecta-hearing-loss-and-intellectual-disability\/\">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-1941","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>Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability (Contributed by Dr Claire E L Smith) - 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\/2024\/03\/11\/biallelic-variants-in-plexin-b2-plxnb2-cause-amelogenesis-imperfecta-hearing-loss-and-intellectual-disability\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability (Contributed by Dr Claire E L Smith) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Plexins are receptors for Semaphorin signalling proteins. Semaphorin-plexin signalling controls cellular interactions that are critical during development and in adult life stages. We identified biallelic variants in Plexin B2 (PLXNB2) through exome or genome sequencing in eight people from six families, each of whom have a syndromic condition including amelogenesis imperfecta and hearing loss. Intellectual [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2024\/03\/11\/biallelic-variants-in-plexin-b2-plxnb2-cause-amelogenesis-imperfecta-hearing-loss-and-intellectual-disability\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2024-03-11T13:06:19+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T23:21:49+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2024\/03\/Untitled2.png\" \/>\n\t<meta property=\"og:image:width\" content=\"976\" \/>\n\t<meta property=\"og:image:height\" content=\"713\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\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\\\/2024\\\/03\\\/11\\\/biallelic-variants-in-plexin-b2-plxnb2-cause-amelogenesis-imperfecta-hearing-loss-and-intellectual-disability\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/03\\\/11\\\/biallelic-variants-in-plexin-b2-plxnb2-cause-amelogenesis-imperfecta-hearing-loss-and-intellectual-disability\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability (Contributed by Dr Claire E L Smith)\",\"datePublished\":\"2024-03-11T13:06:19+00:00\",\"dateModified\":\"2026-02-22T23:21:49+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/03\\\/11\\\/biallelic-variants-in-plexin-b2-plxnb2-cause-amelogenesis-imperfecta-hearing-loss-and-intellectual-disability\\\/\"},\"wordCount\":126,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/03\\\/11\\\/biallelic-variants-in-plexin-b2-plxnb2-cause-amelogenesis-imperfecta-hearing-loss-and-intellectual-disability\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2024\\\/03\\\/Untitled2-300x219.png\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/03\\\/11\\\/biallelic-variants-in-plexin-b2-plxnb2-cause-amelogenesis-imperfecta-hearing-loss-and-intellectual-disability\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/03\\\/11\\\/biallelic-variants-in-plexin-b2-plxnb2-cause-amelogenesis-imperfecta-hearing-loss-and-intellectual-disability\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/03\\\/11\\\/biallelic-variants-in-plexin-b2-plxnb2-cause-amelogenesis-imperfecta-hearing-loss-and-intellectual-disability\\\/\",\"name\":\"Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability (Contributed by Dr Claire E L Smith) - 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Intellectual [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2024\/03\/11\/biallelic-variants-in-plexin-b2-plxnb2-cause-amelogenesis-imperfecta-hearing-loss-and-intellectual-disability\/","og_site_name":"JMG Contact blog","article_published_time":"2024-03-11T13:06:19+00:00","article_modified_time":"2026-02-22T23:21:49+00:00","og_image":[{"width":976,"height":713,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2024\/03\/Untitled2.png","type":"image\/png"}],"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\/2024\/03\/11\/biallelic-variants-in-plexin-b2-plxnb2-cause-amelogenesis-imperfecta-hearing-loss-and-intellectual-disability\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2024\/03\/11\/biallelic-variants-in-plexin-b2-plxnb2-cause-amelogenesis-imperfecta-hearing-loss-and-intellectual-disability\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability (Contributed by Dr Claire E L Smith)","datePublished":"2024-03-11T13:06:19+00:00","dateModified":"2026-02-22T23:21:49+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2024\/03\/11\/biallelic-variants-in-plexin-b2-plxnb2-cause-amelogenesis-imperfecta-hearing-loss-and-intellectual-disability\/"},"wordCount":126,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2024\/03\/11\/biallelic-variants-in-plexin-b2-plxnb2-cause-amelogenesis-imperfecta-hearing-loss-and-intellectual-disability\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2024\/03\/Untitled2-300x219.png","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2024\/03\/11\/biallelic-variants-in-plexin-b2-plxnb2-cause-amelogenesis-imperfecta-hearing-loss-and-intellectual-disability\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2024\/03\/11\/biallelic-variants-in-plexin-b2-plxnb2-cause-amelogenesis-imperfecta-hearing-loss-and-intellectual-disability\/","url":"https:\/\/blogs.bmj.com\/jmg\/2024\/03\/11\/biallelic-variants-in-plexin-b2-plxnb2-cause-amelogenesis-imperfecta-hearing-loss-and-intellectual-disability\/","name":"Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability (Contributed by Dr Claire E L Smith) - 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