{"id":12636,"date":"2022-09-30T15:38:07","date_gmt":"2022-09-30T13:38:07","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=12636"},"modified":"2022-09-30T15:38:07","modified_gmt":"2022-09-30T13:38:07","slug":"genes-of-the-month-september-tbx15-adamts2","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/","title":{"rendered":"Gene(s) of the Month &#8211; September: TBX15 &#038; ADAMTS2"},"content":{"rendered":"<p>A disturbed interaction between TBX15 and ADAMTS2 during embryonic development may cause a previously undescribed craniofacial malformation disorder. Researchers have investigated nine patients presenting a unique soft palate malformation that is different from frequently occurring cleft palate. The patients had unilateral soft palate hypoplasia with a defective sphenoid bone in the pterygoid process but an intact uvula, and some of them showed additional dysmorphic features. Exome sequencing revealed d<em>e novo <\/em>variants in <em>TBX15<\/em> and <em>ADAMTS2<\/em> as potentially causative genetic defects.<\/p>\n<p>The Chinese study published in <em>Human Mutation<\/em> establishes for the first time a link between TBX15 and ADAMTS2 during embryonic palate development. Like other members of the T-box family, <em>TBX15<\/em> encodes a transcription factor containing the characteristic DNA-binding domain T-box. Homozygous loss-of-function variants in <em>TBX15<\/em> have previously been reported to cause Cousin syndrome, a skeletal malformation disorder. A<em>DAMTS2<\/em> belongs to the family of <em>ADAMTS <\/em>genes, which code for metalloproteases that are involved in the cleavage of extracellular matrix molecules and in the processing of collagens. Inactivating <em>ADAMTS2<\/em> variants cause a subtype of Ehlers-Danlos syndrome, a connective tissue disorder. Little has been know so far about the role of TBX15 and ADAMTS2 in soft palate development. The authors of the study conclude from their analyses that TBX15 and ADAMTS2 are colocalized during soft palate development and that TBX15 binds to the ADAMTS2 promoter region, thereby activating the signaling pathway.<\/p>\n[vc_column_text] Zhang Y, Li J, Ji Y, Cheng Y, Fu X. Mutations in the TBX15-ADAMTS2 pathway associate with a novel soft palate dysplasia. Hum Mutat. 2022 Sep 19. doi: 10.1002\/humu.24473. Epub ahead of print. [\/vc_column_text]\n[mk_button dimension=&#8221;flat&#8221; size=&#8221;medium&#8221; icon=&#8221;mk-icon-long-arrow-right&#8221; icon_anim=&#8221;side&#8221; url=&#8221;https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/36124393&#8243; target=&#8221;_blank&#8221; bg_color=&#8221;#006699&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]Article in PubMed[\/mk_button][mk_padding_divider size=&#8221;30&#8243;]\n","protected":false},"excerpt":{"rendered":"<p>A disturbed interaction between TBX15 and ADAMTS2 during embryonic development may cause a previously undescribed craniofacial malformation disorder. Researchers have investigated nine patients presenting a unique soft palate malformation that is different from frequently occurring cleft palate. The patients had unilateral soft palate hypoplasia with a defective sphenoid bone in the pterygoid process but an [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[54],"tags":[],"class_list":["post-12636","post","type-post","status-publish","format-standard","hentry","category-gene-of-the-month"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Gene(s) of the Month - September: TBX15 &amp; ADAMTS2 - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"A disturbed interaction between TBX15 and ADAMTS2 during embryonic development may cause a previously undescribed craniofacial malformation disorder.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Gene(s) of the Month - September: TBX15 &amp; ADAMTS2 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"A disturbed interaction between TBX15 and ADAMTS2 during embryonic development may cause a previously undescribed craniofacial malformation disorder.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2022-09-30T13:38:07+00:00\" \/>\n<meta name=\"author\" content=\"KB\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"KB\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"headline\":\"Gene(s) of the Month &#8211; September: TBX15 &#038; ADAMTS2\",\"datePublished\":\"2022-09-30T13:38:07+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/\"},\"wordCount\":315,\"commentCount\":0,\"articleSection\":[\"Gene of the Month\"],\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/\",\"url\":\"https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/\",\"name\":\"Gene(s) of the Month - September: TBX15 & ADAMTS2 - Institut f\u00fcr Humangenetik\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#website\"},\"datePublished\":\"2022-09-30T13:38:07+00:00\",\"author\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"description\":\"A disturbed interaction between TBX15 and ADAMTS2 during embryonic development may cause a previously undescribed craniofacial malformation disorder.\",\"breadcrumb\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\/\/www.humangenetik-umg.de\/en\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Gene(s) of the Month &#8211; September: TBX15 &#038; ADAMTS2\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#website\",\"url\":\"https:\/\/www.humangenetik-umg.de\/en\/\",\"name\":\"Institut f\u00fcr Humangenetik\",\"description\":\"Institut f\u00fcr Humangenetik der Universit\u00e4tsmedizin G\u00f6ttingen\",\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\/\/www.humangenetik-umg.de\/en\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Person\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\",\"name\":\"KB\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/image\/\",\"url\":\"https:\/\/secure.gravatar.com\/avatar\/599107e4ecdfb329c5aa3823e054ce14?s=96&d=mm&r=g\",\"contentUrl\":\"https:\/\/secure.gravatar.com\/avatar\/599107e4ecdfb329c5aa3823e054ce14?s=96&d=mm&r=g\",\"caption\":\"KB\"},\"url\":\"https:\/\/www.humangenetik-umg.de\/en\/author\/boss\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Gene(s) of the Month - September: TBX15 & ADAMTS2 - Institut f\u00fcr Humangenetik","description":"A disturbed interaction between TBX15 and ADAMTS2 during embryonic development may cause a previously undescribed craniofacial malformation disorder.","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/","og_locale":"en_US","og_type":"article","og_title":"Gene(s) of the Month - September: TBX15 & ADAMTS2 - Institut f\u00fcr Humangenetik","og_description":"A disturbed interaction between TBX15 and ADAMTS2 during embryonic development may cause a previously undescribed craniofacial malformation disorder.","og_url":"https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/","og_site_name":"Institut f\u00fcr Humangenetik","article_published_time":"2022-09-30T13:38:07+00:00","author":"KB","twitter_card":"summary_large_image","twitter_misc":{"Written by":"KB","Est. reading time":"2 minutes"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/#article","isPartOf":{"@id":"https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/"},"author":{"name":"KB","@id":"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675"},"headline":"Gene(s) of the Month &#8211; September: TBX15 &#038; ADAMTS2","datePublished":"2022-09-30T13:38:07+00:00","mainEntityOfPage":{"@id":"https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/"},"wordCount":315,"commentCount":0,"articleSection":["Gene of the Month"],"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/","url":"https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/","name":"Gene(s) of the Month - September: TBX15 & ADAMTS2 - Institut f\u00fcr Humangenetik","isPartOf":{"@id":"https:\/\/www.humangenetik-umg.de\/en\/#website"},"datePublished":"2022-09-30T13:38:07+00:00","author":{"@id":"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675"},"description":"A disturbed interaction between TBX15 and ADAMTS2 during embryonic development may cause a previously undescribed craniofacial malformation disorder.","breadcrumb":{"@id":"https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/www.humangenetik-umg.de\/en\/genes-of-the-month-september-tbx15-adamts2\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/www.humangenetik-umg.de\/en\/"},{"@type":"ListItem","position":2,"name":"Gene(s) of the Month &#8211; September: TBX15 &#038; ADAMTS2"}]},{"@type":"WebSite","@id":"https:\/\/www.humangenetik-umg.de\/en\/#website","url":"https:\/\/www.humangenetik-umg.de\/en\/","name":"Institut f\u00fcr Humangenetik","description":"Institut f\u00fcr Humangenetik der Universit\u00e4tsmedizin G\u00f6ttingen","potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/www.humangenetik-umg.de\/en\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Person","@id":"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675","name":"KB","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/image\/","url":"https:\/\/secure.gravatar.com\/avatar\/599107e4ecdfb329c5aa3823e054ce14?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/599107e4ecdfb329c5aa3823e054ce14?s=96&d=mm&r=g","caption":"KB"},"url":"https:\/\/www.humangenetik-umg.de\/en\/author\/boss\/"}]}},"_links":{"self":[{"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/posts\/12636","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/comments?post=12636"}],"version-history":[{"count":0,"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/posts\/12636\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/media?parent=12636"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/categories?post=12636"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.humangenetik-umg.de\/en\/wp-json\/wp\/v2\/tags?post=12636"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}