{"id":120,"date":"2023-08-16T16:00:23","date_gmt":"2023-08-16T16:00:23","guid":{"rendered":"http:\/\/sebgc.es\/blog\/?guid=2ed9742b6d5823c32e960ed267552e75"},"modified":"2024-01-19T10:35:25","modified_gmt":"2024-01-19T10:35:25","slug":"updates-on-diagnostic-criteria-for-hereditary-haemorrhagic-telangiectasia-in-the-light-of-whole-genome-sequencing-of-gene-negative-individuals-recruited-to-the-100-000-genomes-project","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2023\/08\/16\/updates-on-diagnostic-criteria-for-hereditary-haemorrhagic-telangiectasia-in-the-light-of-whole-genome-sequencing-of-gene-negative-individuals-recruited-to-the-100-000-genomes-project\/","title":{"rendered":"Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of &#8216;gene-negative individuals recruited to the 100 000 Genomes Project"},"content":{"rendered":" <p>Hereditary haemorrhagic telangiectasia (HHT) is diagnosed clinically by the Curacao Criteria of spontaneous recurrent nosebleeds, mucocutaneous telangiectasia at characteristic sites, visceral involvement (arteriovenous malformations (AVMs); gastrointestinal telangiectasia) and family history.<cross-ref type=\"bib\" refid=\"R1\">1<\/cross-ref> Early diagnosis is important to enable AVM screening and preventative treatments.<cross-ref type=\"bib\" refid=\"R2\">2&ndash;5<\/cross-ref><cross-ref type=\"bib\" refid=\"R3\"><\/cross-ref><cross-ref type=\"bib\" refid=\"R4\"><\/cross-ref><cross-ref type=\"bib\" refid=\"R5\"><\/cross-ref> HHT is caused by loss-of-function DNA variants in <I>ENG<\/I>, <I>ACVRL1<\/I>, <I>SMAD4<\/I> or <I>GDF2<\/I>,<cross-ref type=\"bib\" refid=\"R6\">6&ndash;9<\/cross-ref><cross-ref type=\"bib\" refid=\"R7\"><\/cross-ref><cross-ref type=\"bib\" refid=\"R8\"><\/cross-ref><cross-ref type=\"bib\" refid=\"R9\"><\/cross-ref> though older manuscripts describing linkage to additional loci<cross-ref type=\"bib\" refid=\"R10\">10 11<\/cross-ref><cross-ref type=\"bib\" refid=\"R11\"><\/cross-ref> continue to be referenced heavily. In whole genome sequencing (WGS) performed prospectively for HHT &lsquo;gene-negative&rsquo; patients recruited to the National Health Service (NHS) 100 000 Genomes Project,<cross-ref type=\"bib\" refid=\"R12\">12<\/cross-ref> no candidate variants were identified in the <I>HHT3<\/I> or <I>HHT4<\/I> loci. &lsquo;HHT gene-negative&rsquo; families receiving a clinical positive test result included the original HHT3 family, and a family diagnosed with a related vasculopathy (capillary malformation...","protected":false},"excerpt":{"rendered":"<p> Hereditary haemorrhagic telangiectasia (HHT) is diagnosed clinically by the Curacao Criteria of spontaneous recurrent nosebleeds, mucocutaneous telangiectasia at characteristic sites, visceral involvement (arteriovenous malformations (AVMs); gastroint&#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":[],"class_list":["post-120","post","type-post","status-publish","format-standard","hentry","category-articulos","category-jmg","category-open-access"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/120","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=120"}],"version-history":[{"count":2,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/120\/revisions"}],"predecessor-version":[{"id":408,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/120\/revisions\/408"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=120"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=120"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=120"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}