{"id":1592,"date":"2022-07-05T18:39:20","date_gmt":"2022-07-05T18:39:20","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1592"},"modified":"2026-02-23T00:48:02","modified_gmt":"2026-02-23T00:48:02","slug":"bi-allelic-variants-in-wnt7b-disrupt-the-development-of-multiple-organs-in-humans","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2022\/07\/05\/bi-allelic-variants-in-wnt7b-disrupt-the-development-of-multiple-organs-in-humans\/","title":{"rendered":"Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans (Contributed by Dr Nicolas Chassaing)"},"content":{"rendered":"\r\n<p>PDAC syndrome is a rare and severe syndrome characterized by defects in development of the lung, diaphragm, eyes, and heart. Two genes involved in the action of retinoic acid, a derivative of vitamin A, were previously implicated in PDAC syndrome. We demonstrate in this manuscript the involvement of a third gene, named WNT7B, in patients affected by PDAC syndrome. This discovery will facilitate the molecular diagnosis of PDAC syndrome in the future. It also provides new insight into human development, raising the possibility that WNT7B and retinoic acid act together in the development of organs affected in the PDAC syndrome. (https:\/\/jmg.bmj.com\/content\/early\/2022\/07\/05\/jmedgenet-2022-108475)<\/p>\r\n<figure id=\"attachment_1745\" aria-describedby=\"caption-attachment-1745\" style=\"width: 300px\" class=\"wp-caption alignnone\"><a href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/07\/05\/bi-allelic-variants-in-wnt7b-disrupt-the-development-of-multiple-organs-in-humans\/created-with-gimp\/\" rel=\"attachment wp-att-1745\"><img loading=\"lazy\" decoding=\"async\" class=\"size-medium wp-image-1745\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/07\/Authors-mosaic-300x255.jpg\" alt=\"\" width=\"300\" height=\"255\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/07\/Authors-mosaic-300x255.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/07\/Authors-mosaic-1024x871.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/07\/Authors-mosaic-768x654.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/07\/Authors-mosaic-640x545.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/07\/Authors-mosaic.jpg 1161w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><figcaption id=\"caption-attachment-1745\" class=\"wp-caption-text\">Created with GIMP<\/figcaption><\/figure>\r\n<!--TrendMD v2.4.8-->","protected":false},"excerpt":{"rendered":"<p>PDAC syndrome is a rare and severe syndrome characterized by defects in development of the lung, diaphragm, eyes, and heart. Two genes involved in the action of retinoic acid, a derivative of vitamin A, were previously implicated in PDAC syndrome. We demonstrate in this manuscript the involvement of a third gene, named WNT7B, in patients [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/07\/05\/bi-allelic-variants-in-wnt7b-disrupt-the-development-of-multiple-organs-in-humans\/\">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-1592","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans (Contributed by Dr Nicolas Chassaing) - 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\/2022\/07\/05\/bi-allelic-variants-in-wnt7b-disrupt-the-development-of-multiple-organs-in-humans\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans (Contributed by Dr Nicolas Chassaing) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"PDAC syndrome is a rare and severe syndrome characterized by defects in development of the lung, diaphragm, eyes, and heart. Two genes involved in the action of retinoic acid, a derivative of vitamin A, were previously implicated in PDAC syndrome. We demonstrate in this manuscript the involvement of a third gene, named WNT7B, in patients [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2022\/07\/05\/bi-allelic-variants-in-wnt7b-disrupt-the-development-of-multiple-organs-in-humans\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2022-07-05T18:39:20+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:48:02+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/07\/Authors-mosaic.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1161\" \/>\n\t<meta property=\"og:image:height\" content=\"988\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/07\\\/05\\\/bi-allelic-variants-in-wnt7b-disrupt-the-development-of-multiple-organs-in-humans\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/07\\\/05\\\/bi-allelic-variants-in-wnt7b-disrupt-the-development-of-multiple-organs-in-humans\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans (Contributed by Dr Nicolas Chassaing)\",\"datePublished\":\"2022-07-05T18:39:20+00:00\",\"dateModified\":\"2026-02-23T00:48:02+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/07\\\/05\\\/bi-allelic-variants-in-wnt7b-disrupt-the-development-of-multiple-organs-in-humans\\\/\"},\"wordCount\":138,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/07\\\/05\\\/bi-allelic-variants-in-wnt7b-disrupt-the-development-of-multiple-organs-in-humans\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2022\\\/07\\\/Authors-mosaic-300x255.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/07\\\/05\\\/bi-allelic-variants-in-wnt7b-disrupt-the-development-of-multiple-organs-in-humans\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/07\\\/05\\\/bi-allelic-variants-in-wnt7b-disrupt-the-development-of-multiple-organs-in-humans\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/07\\\/05\\\/bi-allelic-variants-in-wnt7b-disrupt-the-development-of-multiple-organs-in-humans\\\/\",\"name\":\"Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans (Contributed by Dr Nicolas Chassaing) - 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