{"id":1137,"date":"2025-11-21T13:24:34","date_gmt":"2025-11-21T13:24:34","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=550f33b5eae7236ff8031769d3959d3b"},"modified":"2025-11-21T13:24:34","modified_gmt":"2025-11-21T13:24:34","slug":"further-evidence-of-rnu4atac-variants-causing-joubert-syndrome-with-skeletal-involvement","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/21\/further-evidence-of-rnu4atac-variants-causing-joubert-syndrome-with-skeletal-involvement\/","title":{"rendered":"Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement"},"content":{"rendered":"\n<p>  <I>RNU4ATAC<\/I> is a non-coding gene involved in the minor spliceosome, and is mutated in a spectrum of syndromic skeletal disorders with recessive inheritance. Recently, biallelic <I>RNU4ATAC<\/I> pathogenic variants were detected in five patients presenting a complex syndromic phenotype and a brain malformation resembling the &lsquo;molar tooth sign&rsquo; (MTS). This is the hallmark of Joubert syndrome (JS), a neurodevelopmental ciliopathy with multiorgan involvement.<\/p>\n<p>We reanalysed exome sequencing (ES) from 53 patients with JS, who lacked coding variants in known JS-associated genes. Four <I>RNU4ATAC<\/I> variants (n.16G&gt;A, n.51G&gt;A, n.13C&gt;T and n.30G&gt;A) were identified in compound heterozygosity in three probands, accounting for 5.6% of negative cases. All patients displayed the MTS and clinical features overlapping those of JS and <I>RNU4ATAC<\/I>-related skeletal disorders.<\/p>\n<p>These findings expand the phenotypic spectrum of <I>RNU4ATAC<\/I>-related disorders to include a complex neurological-skeletal ciliopathy phenotype, and highlight the relevance of ES reanalysis to uncover non-coding variants often undetected by conventional diagnostics.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>  RNU4ATAC is a non-coding gene involved in the minor spliceosome, and is mutated in a spectrum of syndromic skeletal disorders with recessive inheritance. Recently, biallelic RNU4ATAC pathogenic variants were detected in five patients presenting a co&#8230;<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,14,9],"tags":[83],"class_list":["post-1137","post","type-post","status-publish","format-standard","hentry","category-articulos","category-jmg","category-open-access","tag-jmedgenet"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1137","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=1137"}],"version-history":[{"count":1,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1137\/revisions"}],"predecessor-version":[{"id":1138,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1137\/revisions\/1138"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=1137"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=1137"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=1137"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}