{"id":2110,"date":"2025-09-17T15:47:24","date_gmt":"2025-09-17T15:47:24","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2110"},"modified":"2026-02-22T00:50:14","modified_gmt":"2026-02-22T00:50:14","slug":"further-evidence-of-rnu4atac-variants-causing-joubert-syndrome-with-skeletal-involvement","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2025\/09\/17\/further-evidence-of-rnu4atac-variants-causing-joubert-syndrome-with-skeletal-involvement\/","title":{"rendered":"Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement (Contributed by Fulvio D\u2019Abrusco)"},"content":{"rendered":"<p>We identified disease-causing variants in the non-coding gene RNU4ATAC in patients with Joubert syndrome, a rare neurodevelopmental disorder. These individuals also presented features overlapping with skeletal disorders already associated to RNU4ATAC, such as short stature and other anomalies. Our findings confirm that RNU4ATAC variants can lead to a combined neurological and skeletal phenotype. Importantly, the variants were initially missed by standard analyses and identified through targeted reanalysis of exome data, underlining the diagnostic relevance of revisiting existing data to uncover non-coding alterations. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2025\/09\/11\/jmg-2025-110987\">https:\/\/jmg.bmj.com\/content\/early\/2025\/09\/11\/jmg-2025-110987<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>We identified disease-causing variants in the non-coding gene RNU4ATAC in patients with Joubert syndrome, a rare neurodevelopmental disorder. These individuals also presented features overlapping with skeletal disorders already associated to RNU4ATAC, such as short stature and other anomalies. Our findings confirm that RNU4ATAC variants can lead to a combined neurological and skeletal phenotype. Importantly, the [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2025\/09\/17\/further-evidence-of-rnu4atac-variants-causing-joubert-syndrome-with-skeletal-involvement\/\">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-2110","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>Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement (Contributed by Fulvio D\u2019Abrusco) - 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\/09\/17\/further-evidence-of-rnu4atac-variants-causing-joubert-syndrome-with-skeletal-involvement\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement (Contributed by Fulvio D\u2019Abrusco) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"We identified disease-causing variants in the non-coding gene RNU4ATAC in patients with Joubert syndrome, a rare neurodevelopmental disorder. These individuals also presented features overlapping with skeletal disorders already associated to RNU4ATAC, such as short stature and other anomalies. Our findings confirm that RNU4ATAC variants can lead to a combined neurological and skeletal phenotype. Importantly, the [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2025\/09\/17\/further-evidence-of-rnu4atac-variants-causing-joubert-syndrome-with-skeletal-involvement\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2025-09-17T15:47:24+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T00:50:14+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\\\/09\\\/17\\\/further-evidence-of-rnu4atac-variants-causing-joubert-syndrome-with-skeletal-involvement\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/09\\\/17\\\/further-evidence-of-rnu4atac-variants-causing-joubert-syndrome-with-skeletal-involvement\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement (Contributed by Fulvio D\u2019Abrusco)\",\"datePublished\":\"2025-09-17T15:47:24+00:00\",\"dateModified\":\"2026-02-22T00:50:14+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/09\\\/17\\\/further-evidence-of-rnu4atac-variants-causing-joubert-syndrome-with-skeletal-involvement\\\/\"},\"wordCount\":110,\"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\\\/09\\\/17\\\/further-evidence-of-rnu4atac-variants-causing-joubert-syndrome-with-skeletal-involvement\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/09\\\/17\\\/further-evidence-of-rnu4atac-variants-causing-joubert-syndrome-with-skeletal-involvement\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2025\\\/09\\\/17\\\/further-evidence-of-rnu4atac-variants-causing-joubert-syndrome-with-skeletal-involvement\\\/\",\"name\":\"Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement (Contributed by Fulvio D\u2019Abrusco) - 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