{"id":8027,"date":"2016-11-11T11:36:41","date_gmt":"2016-11-11T10:36:41","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/en\/?p=8027"},"modified":"2016-12-01T09:42:12","modified_gmt":"2016-12-01T08:42:12","slug":"mtor-mutation-identified","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/mtor-mutation-identified\/","title":{"rendered":"MTOR mutation identified in third family with Smith-Kingsmore syndrome"},"content":{"rendered":"<div class=\"wpb-content-wrapper\">[vc_row][vc_column][vc_column_text]Researchers of the Institute of Human Genetics G\u00f6ttingen have identified a mutation in the <em>MTOR <\/em>gene as the causative genetic variation in a family with Smith-Kingsmore syndrome. This variant had previously been described in two other families. Smith-Kingsmore syndrome is a rare disorder characterized by macrocephaly, developmental delay and facial dysmorphism with autosomal dominant inheritance. In line with the previously reported findings, this recent study supports the presence of parental gonadal mosaicism as the underlying mechanism. Additionally, it suggests that the <em>MTOR <\/em>mutation might also cause intestinal polyps in affected individuals.<\/p>\n<p>The study has now been published in the <em>American Journal of Medical Genetics<\/em>:<\/p>\n<p><strong>Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G&gt;A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism<\/strong><br \/>\nMoosa S, B\u00f6hrer-Rabel H, Altm\u00fcller J, Beleggia F, N\u00fcrnberg P, Li Y, Yigit G, Wollnik B.<br \/>\n<em>Am J Med Genet A<\/em>. 2016 Oct 18. doi: 10.1002\/ajmg.a.37999. [Epub ahead of print]\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\/27753196&#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][\/vc_column_text][\/vc_column][\/vc_row]\n<\/div>","protected":false},"excerpt":{"rendered":"<p>[vc_row][vc_column][vc_column_text]Researchers of the Institute of Human Genetics G\u00f6ttingen have identified a mutation in the MTOR gene as the causative genetic variation in a family with Smith-Kingsmore syndrome. This variant had previously been described in two other families. Smith-Kingsmore syndrome is a rare disorder characterized by macrocephaly, developmental delay and facial dysmorphism with autosomal dominant inheritance. [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[51,52],"tags":[],"class_list":["post-8027","post","type-post","status-publish","format-standard","hentry","category-news","category-research"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>MTOR mutation identified in third family with Smith-Kingsmore syndrome - Institut f\u00fcr Humangenetik<\/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:\/\/www.humangenetik-umg.de\/en\/mtor-mutation-identified\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"MTOR mutation identified in third family with Smith-Kingsmore syndrome - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"[vc_row][vc_column][vc_column_text]Researchers of the Institute of Human Genetics G\u00f6ttingen have identified a mutation in the MTOR gene as the causative genetic variation in a family with Smith-Kingsmore syndrome. 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