{"id":273,"date":"2012-03-05T20:05:24","date_gmt":"2012-03-05T20:05:24","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=273"},"modified":"2012-03-06T00:13:18","modified_gmt":"2012-03-06T00:13:18","slug":"the-phenotypic-spectrum-of-the-smad3-related-aneurysms-osteoarthritis-syndrome-aos","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2012\/03\/05\/the-phenotypic-spectrum-of-the-smad3-related-aneurysms-osteoarthritis-syndrome-aos\/","title":{"rendered":"The phenotypic spectrum of the SMAD3-related Aneurysms-Osteoarthritis Syndrome (AOS)"},"content":{"rendered":"<p>Arterial aneurysms are associated with a high morbidity and mortality. Some arterial aneurysms are inherited and due to mutations in different genes in the TGFB signal transduction pathway. We recently identified a new genetic syndrome with arterial aneurysms associated with early-onset osteoarthritis (Aneurysms-Osteoarthritis Syndrome). This new syndrome is caused by mutations in the <em>SMAD3<\/em> gene, a gene in the TGFB pathway. In the present study, we describe 8 families with Aneurysms-Osteoarthritis Syndrome caused by different<em> SMAD3<\/em> mutations. In the majority of patients early-onset joint abnormalities including osteoarthritis were the initial symptom to seek medical advice. Cardiovascular abnormalities were present in almost 90% of patients, and involved mainly aortic aneurysms and dissections. (By Ingrid van de Laar, MD, <a href=\"http:\/\/jmg.bmj.com\/content\/49\/1\/47\">http:\/\/jmg.bmj.com\/content\/49\/1\/47<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Arterial aneurysms are associated with a high morbidity and mortality. Some arterial aneurysms are inherited and due to mutations in different genes in the TGFB signal transduction pathway. We recently identified a new genetic syndrome with arterial aneurysms associated with early-onset osteoarthritis (Aneurysms-Osteoarthritis Syndrome). This new syndrome is caused by mutations in the SMAD3 gene, [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2012\/03\/05\/the-phenotypic-spectrum-of-the-smad3-related-aneurysms-osteoarthritis-syndrome-aos\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-273","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/273","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=273"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/273\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=273"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=273"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=273"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}