{"id":1512,"date":"2020-08-05T16:10:07","date_gmt":"2020-08-05T16:10:07","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1512"},"modified":"2026-02-23T23:51:09","modified_gmt":"2026-02-23T23:51:09","slug":"biallelic-mutations-in-the-togaram1-gene-cause-a-novel-primary-ciliopathy","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/05\/biallelic-mutations-in-the-togaram1-gene-cause-a-novel-primary-ciliopathy\/","title":{"rendered":"Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy (Contributed by Dr Eva Trevisson)"},"content":{"rendered":"<p>Cilia are essential subcellular structures present on most cell types. Their alterations is associated with distinct disorders affecting development, particularly brain anomalies.<\/p>\n<p>Many genes have been associated with primary ciliopathies, but some patients lack a molecular diagnosis.<\/p>\n<p>Molecular analysis in a family with a malformation disorder identified mutations in <em>TOGARAM1<\/em>, which is conserved in nematodes where it is expressed in the cilium of a subset of sensory neurons.<\/p>\n<p>Both cilium structure and behaviors controlled by these sensory neurons were affected in genetically modified worms expressing the corresponding human variants, confirming their pathogenic role and connecting <em>TOGARAM1<\/em> to primary ciliopathies. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/08\/02\/jmedgenet-2020-106833\">https:\/\/jmg.bmj.com\/content\/early\/2020\/08\/02\/jmedgenet-2020-106833<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Cilia are essential subcellular structures present on most cell types. Their alterations is associated with distinct disorders affecting development, particularly brain anomalies. Many genes have been associated with primary ciliopathies, but some patients lack a molecular diagnosis. Molecular analysis in a family with a malformation disorder identified mutations in TOGARAM1, which is conserved in nematodes [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/05\/biallelic-mutations-in-the-togaram1-gene-cause-a-novel-primary-ciliopathy\/\">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-1512","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>Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy (Contributed by Dr Eva Trevisson) - 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\/08\/05\/biallelic-mutations-in-the-togaram1-gene-cause-a-novel-primary-ciliopathy\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy (Contributed by Dr Eva Trevisson) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Cilia are essential subcellular structures present on most cell types. Their alterations is associated with distinct disorders affecting development, particularly brain anomalies. Many genes have been associated with primary ciliopathies, but some patients lack a molecular diagnosis. Molecular analysis in a family with a malformation disorder identified mutations in TOGARAM1, which is conserved in nematodes [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/05\/biallelic-mutations-in-the-togaram1-gene-cause-a-novel-primary-ciliopathy\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-08-05T16:10:07+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T23:51:09+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\\\/2020\\\/08\\\/05\\\/biallelic-mutations-in-the-togaram1-gene-cause-a-novel-primary-ciliopathy\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/05\\\/biallelic-mutations-in-the-togaram1-gene-cause-a-novel-primary-ciliopathy\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy (Contributed by Dr Eva Trevisson)\",\"datePublished\":\"2020-08-05T16:10:07+00:00\",\"dateModified\":\"2026-02-23T23:51:09+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/05\\\/biallelic-mutations-in-the-togaram1-gene-cause-a-novel-primary-ciliopathy\\\/\"},\"wordCount\":123,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/05\\\/biallelic-mutations-in-the-togaram1-gene-cause-a-novel-primary-ciliopathy\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/05\\\/biallelic-mutations-in-the-togaram1-gene-cause-a-novel-primary-ciliopathy\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/05\\\/biallelic-mutations-in-the-togaram1-gene-cause-a-novel-primary-ciliopathy\\\/\",\"name\":\"Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy (Contributed by Dr Eva Trevisson) - 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