{"id":1949,"date":"2024-04-05T21:29:25","date_gmt":"2024-04-05T21:29:25","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1949"},"modified":"2026-02-22T23:16:44","modified_gmt":"2026-02-22T23:16:44","slug":"phenotypic-characterisation-of-smad4-variant-carriers","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2024\/04\/05\/phenotypic-characterisation-of-smad4-variant-carriers\/","title":{"rendered":"Phenotypic characterisation of SMAD4 variant carriers (Contributed by Dr Sophie Dupuis-Girod)"},"content":{"rendered":"

In this observational study, we describe the phenotype of 33 patients carrying SMAD4 variants. Both hereditary haemorrhagic telangiectasia (HHT), a rare vascular genetic disease, and juvenile polyposis syndrome (JPS), a rare precancerous condition that confers an increased risk of developing gastrointestinal cancers, are known to be caused by SMAD4 pathogenic variants. Given SMAD4’s crucial role at the intersection of SMAD-dependent TGF-beta signaling pathways, we looked for symptoms of genetic connective tissue disorders in these patients. Such symptoms were observed in 61% of the patients in this study, thereby strengthening the proposed association. Based on our findings, we recommend screening all carriers of SMAD4 pathogenic variants for arterio-venous malformations, digestive polyps, aortic dilation, and skeletal complications. (https:\/\/jmg.bmj.com\/content\/early\/2024\/04\/04\/jmg-2023-109632<\/a> )<\/p>\n

\"\"<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"

In this observational study, we describe the phenotype of 33 patients carrying SMAD4 variants. Both hereditary haemorrhagic telangiectasia (HHT), a rare vascular genetic disease, and juvenile polyposis syndrome (JPS), a rare precancerous condition that confers an increased risk of developing gastrointestinal cancers, are known to be caused by SMAD4 pathogenic variants. Given SMAD4’s crucial role […]<\/p>\n

Read More…<\/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-1949","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nPhenotypic characterisation of SMAD4 variant carriers (Contributed by Dr Sophie Dupuis-Girod) - 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\/2024\/04\/05\/phenotypic-characterisation-of-smad4-variant-carriers\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Phenotypic characterisation of SMAD4 variant carriers (Contributed by Dr Sophie Dupuis-Girod) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"In this observational study, we describe the phenotype of 33 patients carrying SMAD4 variants. Both hereditary haemorrhagic telangiectasia (HHT), a rare vascular genetic disease, and juvenile polyposis syndrome (JPS), a rare precancerous condition that confers an increased risk of developing gastrointestinal cancers, are known to be caused by SMAD4 pathogenic variants. 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