{"id":1398,"date":"2020-01-04T07:26:05","date_gmt":"2020-01-04T07:26:05","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1398"},"modified":"2026-02-24T00:20:20","modified_gmt":"2026-02-24T00:20:20","slug":"increased-tbx6-gene-dosages-induce-congenital-cervical-vertebral-malformations-in-humans-and-mice","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/01\/04\/increased-tbx6-gene-dosages-induce-congenital-cervical-vertebral-malformations-in-humans-and-mice\/","title":{"rendered":"Increased TBX6 Gene Dosages Induce Congenital Cervical Vertebral Malformations in Humans and Mice (Contributed by Professor Feng Zhang)"},"content":{"rendered":"<p>We previously reported that the human 16p11.2 BP4-BP5 deletion and its associated <em>TBX6 <\/em>dosage reduction caused congenital vertebral malformations (CVMs) in thoracic and lumber vertebrae. Here we reveal genetic contributions of the reciprocal 16p11.2 BP4-BP5 duplication to cervical CVMs. The spinal assessments in seven duplication carriers showed that four presented characteristics of cervical CVMs. We also generated the mouse model that functionally mimics the <em>TBX6<\/em> dosage of duplication carriers. Remarkably, 60% of the mutated mice manifested with cervical CVMs. Our findings in humans and mice consistently support that an increased <em>TBX6<\/em> dosage contributes to the risk of developing cervical CVMs. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2019\/12\/30\/jmedgenet-2019-106333\">https:\/\/jmg.bmj.com\/content\/early\/2019\/12\/30\/jmedgenet-2019-106333<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/01\/04\/increased-tbx6-gene-dosages-induce-congenital-cervical-vertebral-malformations-in-humans-and-mice\/fig\/\" rel=\"attachment wp-att-1399\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1399\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/01\/Fig-300x135.jpg\" alt=\"\" width=\"300\" height=\"135\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/01\/Fig-300x135.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/01\/Fig-768x346.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/01\/Fig-1024x461.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/01\/Fig-640x288.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>We previously reported that the human 16p11.2 BP4-BP5 deletion and its associated TBX6 dosage reduction caused congenital vertebral malformations (CVMs) in thoracic and lumber vertebrae. Here we reveal genetic contributions of the reciprocal 16p11.2 BP4-BP5 duplication to cervical CVMs. The spinal assessments in seven duplication carriers showed that four presented characteristics of cervical CVMs. We [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/01\/04\/increased-tbx6-gene-dosages-induce-congenital-cervical-vertebral-malformations-in-humans-and-mice\/\">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-1398","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>Increased TBX6 Gene Dosages Induce Congenital Cervical Vertebral Malformations in Humans and Mice (Contributed by Professor Feng Zhang) - 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\/01\/04\/increased-tbx6-gene-dosages-induce-congenital-cervical-vertebral-malformations-in-humans-and-mice\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Increased TBX6 Gene Dosages Induce Congenital Cervical Vertebral Malformations in Humans and Mice (Contributed by Professor Feng Zhang) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"We previously reported that the human 16p11.2 BP4-BP5 deletion and its associated TBX6 dosage reduction caused congenital vertebral malformations (CVMs) in thoracic and lumber vertebrae. Here we reveal genetic contributions of the reciprocal 16p11.2 BP4-BP5 duplication to cervical CVMs. The spinal assessments in seven duplication carriers showed that four presented characteristics of cervical CVMs. We [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/01\/04\/increased-tbx6-gene-dosages-induce-congenital-cervical-vertebral-malformations-in-humans-and-mice\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-01-04T07:26:05+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:20:20+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/01\/Fig.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"3991\" \/>\n\t<meta property=\"og:image:height\" content=\"1798\" \/>\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\\\/2020\\\/01\\\/04\\\/increased-tbx6-gene-dosages-induce-congenital-cervical-vertebral-malformations-in-humans-and-mice\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/01\\\/04\\\/increased-tbx6-gene-dosages-induce-congenital-cervical-vertebral-malformations-in-humans-and-mice\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Increased TBX6 Gene Dosages Induce Congenital Cervical Vertebral Malformations in Humans and Mice (Contributed by Professor Feng Zhang)\",\"datePublished\":\"2020-01-04T07:26:05+00:00\",\"dateModified\":\"2026-02-24T00:20:20+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/01\\\/04\\\/increased-tbx6-gene-dosages-induce-congenital-cervical-vertebral-malformations-in-humans-and-mice\\\/\"},\"wordCount\":127,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/01\\\/04\\\/increased-tbx6-gene-dosages-induce-congenital-cervical-vertebral-malformations-in-humans-and-mice\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/01\\\/Fig-300x135.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/01\\\/04\\\/increased-tbx6-gene-dosages-induce-congenital-cervical-vertebral-malformations-in-humans-and-mice\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/01\\\/04\\\/increased-tbx6-gene-dosages-induce-congenital-cervical-vertebral-malformations-in-humans-and-mice\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/01\\\/04\\\/increased-tbx6-gene-dosages-induce-congenital-cervical-vertebral-malformations-in-humans-and-mice\\\/\",\"name\":\"Increased TBX6 Gene Dosages Induce Congenital Cervical Vertebral Malformations in Humans and Mice (Contributed by Professor Feng Zhang) - 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