{"id":14270,"date":"2025-04-01T13:37:41","date_gmt":"2025-04-01T11:37:41","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=14270"},"modified":"2025-04-01T13:37:41","modified_gmt":"2025-04-01T11:37:41","slug":"gene-of-the-month-march-med16","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-march-med16\/","title":{"rendered":"Gene of the Month &#8211; March \u2013 MED16"},"content":{"rendered":"<p>Researchers have uncovered a novel neurodevelopmental disorder featuring multiple congenital anomalies that is linked to variants in the <em>MED16<\/em> gene. Published in the <em>American Journal of Human Genetics<\/em>, the study identified causative biallelic <em>MED16<\/em> variants in 25 patients presenting with an autosomal recessive syndrome marked by intellectual disability, motor delay and a range of malformations. These malformations appeared in various combinations, predominantly affecting the face and skull, heart and limbs in most patients. The researchers conclude that certain tissues are more sensitive to loss of MED16 function.<\/p>\n<p><em>MED16<\/em> encodes a key subunit within the Mediator complex\u2019s tail module. This multiprotein complex is essential in gene transcription, connecting transcription factors and RNA polymerase II and promoting the assembly of the preinitiation complex, a necessary step for initiating transcription. MED16 interacts with several other components of the Mediator tail module, as well as with MED14, which acts as a structural backbone for the complex.<\/p>\n<p>Unlike several other Mediator complex subunits, <em>MED16<\/em> variants have so far not been linked to a human disorder. This study is thus the first to implicate MED16 within the framework of a group of neurodevelopmental and neurodegenerative disorders that arise from defects in Mediator complex components, referred to as MEDopathies.<\/p>\n[vc_column_text] Guillouet C, Agostini V, Baujat G, \u2026, Gordon CT. Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations. <em>Am J Hum Genet.<\/em> 2025 Mar 11:S0002-9297(25)00063-1. doi: 10.1016\/j.ajhg.2025.02.016. 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\/40081376&#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>Researchers have uncovered a novel neurodevelopmental disorder featuring multiple congenital anomalies that is linked to variants in the MED16 gene. Published in the American Journal of Human Genetics, the study identified causative biallelic MED16 variants in 25 patients presenting with an autosomal recessive syndrome marked by intellectual disability, motor delay and a range of malformations. [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[54],"tags":[],"class_list":["post-14270","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 of the Month - March \u2013 MED16 - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"Researchers have uncovered a novel neurodevelopmental disorder featuring multiple congenital anomalies that is linked to variants in the MED16 gene.\" \/>\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\/gene-of-the-month-march-med16\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Gene of the Month - March \u2013 MED16 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"Researchers have uncovered a novel neurodevelopmental disorder featuring multiple congenital anomalies that is linked to variants in the MED16 gene.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-march-med16\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2025-04-01T11:37:41+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\/gene-of-the-month-march-med16\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-march-med16\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"headline\":\"Gene of the Month &#8211; 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