{"id":1447,"date":"2020-05-07T15:15:14","date_gmt":"2020-05-07T15:15:14","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1447"},"modified":"2026-02-24T00:06:21","modified_gmt":"2026-02-24T00:06:21","slug":"15q11-2-deletion-is-enriched-in-patients-with-total-anomalous-pulmonary-venous-connection","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/05\/07\/15q11-2-deletion-is-enriched-in-patients-with-total-anomalous-pulmonary-venous-connection\/","title":{"rendered":"15q11.2 deletion is enriched in patients with total anomalous pulmonary venous connection (Contributed by Dr. Bo Wang)"},"content":{"rendered":"<p>15q11.2 has been associated a wide range of developmental such as neuropsychical diorders. In the study, we discovered that total anomalous pulmonary venous connection (TAPVC), A rare form of CHD, is significantly associated with 15q11.2 deletion. Using induced pluripotent stem (iPS) cells coupled with in vitro cardiomyocyte differentiation experiments, we showed that the iPS cells from the proband carrying 15q11.2 deletion could not differentiated to regular beating cardiomyocytes, whereas iPS cells from the deletion-carrying father and the normal mother did not show abnormality. Transcriptomic profiles of a TAPVC trio indicated disturbed expression of TAPVC associated genes during cell differentiation stages. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/05\/05\/jmedgenet-2019-106608\">https:\/\/jmg.bmj.com\/content\/early\/2020\/05\/05\/jmedgenet-2019-106608<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/05\/07\/15q11-2-deletion-is-enriched-in-patients-with-total-anomalous-pulmonary-venous-connection\/15q11-2\/\" rel=\"attachment wp-att-1448\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1448\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/05\/15q11.2-300x215.jpeg\" alt=\"\" width=\"300\" height=\"215\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/05\/15q11.2-300x215.jpeg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/05\/15q11.2-768x550.jpeg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/05\/15q11.2-640x458.jpeg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/05\/15q11.2.jpeg 800w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>15q11.2 has been associated a wide range of developmental such as neuropsychical diorders. In the study, we discovered that total anomalous pulmonary venous connection (TAPVC), A rare form of CHD, is significantly associated with 15q11.2 deletion. Using induced pluripotent stem (iPS) cells coupled with in vitro cardiomyocyte differentiation experiments, we showed that the iPS cells [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/05\/07\/15q11-2-deletion-is-enriched-in-patients-with-total-anomalous-pulmonary-venous-connection\/\">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-1447","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>15q11.2 deletion is enriched in patients with total anomalous pulmonary venous connection (Contributed by Dr. Bo Wang) - 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\/2020\/05\/07\/15q11-2-deletion-is-enriched-in-patients-with-total-anomalous-pulmonary-venous-connection\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"15q11.2 deletion is enriched in patients with total anomalous pulmonary venous connection (Contributed by Dr. Bo Wang) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"15q11.2 has been associated a wide range of developmental such as neuropsychical diorders. In the study, we discovered that total anomalous pulmonary venous connection (TAPVC), A rare form of CHD, is significantly associated with 15q11.2 deletion. 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