{"id":2034,"date":"2025-01-14T17:49:50","date_gmt":"2025-01-14T17:49:50","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2034"},"modified":"2026-02-22T01:22:17","modified_gmt":"2026-02-22T01:22:17","slug":"novel-hyls1-variants-associated-with-joubert-syndrome-suggest-potential-genotype-phenotype-correlates","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/01\/14\/novel-hyls1-variants-associated-with-joubert-syndrome-suggest-potential-genotype-phenotype-correlates\/","title":{"rendered":"Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates (Contributed by Dr. Fulvio D&#8217;Abrusco)"},"content":{"rendered":"<p>Joubert syndrome (JS) is a rare genetic ciliopathy, whose diagnostic hallmark is the &#8220;molar tooth sign&#8221; on brain MRI. Mutations in over 40 different genes can cause JS, many of which are involved in the proper functioning of primary cilia. HYLS1 gene is associated with a severe condition called Hydrolethalus syndrome, leading to early death. However, our study describes a patient with JS carrying biallelic mutations in this gene, suggesting that the variant localization might influence the severity of the disease. This finding helps us understand why mutations in the same gene can lead to different conditions. (<a href=\"https:\/\/jmg.bmj.com\/content\/62\/1\/3\">https:\/\/jmg.bmj.com\/content\/62\/1\/3<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Joubert syndrome (JS) is a rare genetic ciliopathy, whose diagnostic hallmark is the &#8220;molar tooth sign&#8221; on brain MRI. Mutations in over 40 different genes can cause JS, many of which are involved in the proper functioning of primary cilia. HYLS1 gene is associated with a severe condition called Hydrolethalus syndrome, leading to early death. [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2025\/01\/14\/novel-hyls1-variants-associated-with-joubert-syndrome-suggest-potential-genotype-phenotype-correlates\/\">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-2034","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>Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates (Contributed by Dr. Fulvio D&#039;Abrusco) - 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\/2025\/01\/14\/novel-hyls1-variants-associated-with-joubert-syndrome-suggest-potential-genotype-phenotype-correlates\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates (Contributed by Dr. Fulvio D&#039;Abrusco) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Joubert syndrome (JS) is a rare genetic ciliopathy, whose diagnostic hallmark is the &#8220;molar tooth sign&#8221; on brain MRI. Mutations in over 40 different genes can cause JS, many of which are involved in the proper functioning of primary cilia. HYLS1 gene is associated with a severe condition called Hydrolethalus syndrome, leading to early death. [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2025\/01\/14\/novel-hyls1-variants-associated-with-joubert-syndrome-suggest-potential-genotype-phenotype-correlates\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2025-01-14T17:49:50+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T01:22:17+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\\\/2025\\\/01\\\/14\\\/novel-hyls1-variants-associated-with-joubert-syndrome-suggest-potential-genotype-phenotype-correlates\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/01\\\/14\\\/novel-hyls1-variants-associated-with-joubert-syndrome-suggest-potential-genotype-phenotype-correlates\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates (Contributed by Dr. Fulvio D&#8217;Abrusco)\",\"datePublished\":\"2025-01-14T17:49:50+00:00\",\"dateModified\":\"2026-02-22T01:22:17+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/01\\\/14\\\/novel-hyls1-variants-associated-with-joubert-syndrome-suggest-potential-genotype-phenotype-correlates\\\/\"},\"wordCount\":118,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/01\\\/14\\\/novel-hyls1-variants-associated-with-joubert-syndrome-suggest-potential-genotype-phenotype-correlates\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/01\\\/14\\\/novel-hyls1-variants-associated-with-joubert-syndrome-suggest-potential-genotype-phenotype-correlates\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/01\\\/14\\\/novel-hyls1-variants-associated-with-joubert-syndrome-suggest-potential-genotype-phenotype-correlates\\\/\",\"name\":\"Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates (Contributed by Dr. Fulvio D'Abrusco) - 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Mutations in over 40 different genes can cause JS, many of which are involved in the proper functioning of primary cilia. HYLS1 gene is associated with a severe condition called Hydrolethalus syndrome, leading to early death. 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