{"id":11959,"date":"2021-05-04T09:18:26","date_gmt":"2021-05-04T07:18:26","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=11959"},"modified":"2021-05-04T09:18:26","modified_gmt":"2021-05-04T07:18:26","slug":"gene-of-the-month-april-srcap","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-april-srcap\/","title":{"rendered":"Gene of the Month &#8211; April: SRCAP"},"content":{"rendered":"<p>Using a machine learning model, researchers have shown in a recent study that, depending on the position of mutations, variants of the <em>SRCAP<\/em> gene do not only cause Floating Harbor syndrome but also other neurogenetic disorders. <em>SRCAP<\/em> encodes the Snf2-related CREBBP activator protein, an ATPase involved in chromatin remodelling by regulating incorporation of histones into nucleosomes. It has been known that <em>de novo<\/em> mutations specifically located in exons 33 or 34 of <em>SRCAP<\/em> result in Floating Harbor syndrome (FLHS), a rare neurodevelopmental disorder mainly characterized by short stature, speech delay and very specific facial dysmorphism.<\/p>\n<p>In the study led by groups from Canada and the Netherlands, the researchers investigated a cohort of 33 individuals with clinical features distinct from FLHS and with truncating, mostly <em>de novo<\/em>, mutations located at different sites in <em>SRCAP<\/em> outside the known FLHS-causing locus. In FLHS, a very specific pattern of DNA methylation changes is found in blood and the researchers explored whether the patients in their cohort also showed a distinct signature. They detected a clear relationship between variant position, resulting DNA methylation profile and clinical phenotype.<\/p>\n<p>The study results have been published in the <em>American Journal of Human Genetics<\/em>.<\/p>\n[vc_column_text] Rots D, Chater-Diehl E, Dingemans AJM, \u2026Weksberg R. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. <em>Am J Hum Genet<\/em>. 2021 Apr 19:S0002-9297(21)00139-7. doi: 10.1016\/j.ajhg.2021.04.008. 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\/33909990&#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>Using a machine learning model, researchers have shown in a recent study that, depending on the position of mutations, variants of the SRCAP gene do not only cause Floating Harbor syndrome but also other neurogenetic disorders. SRCAP encodes the Snf2-related CREBBP activator protein, an ATPase involved in chromatin remodelling by regulating incorporation of histones into [&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-11959","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 - April: SRCAP - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"Depending on the position of mutations, variants of the SRCAP gene do not only cause Floating Harbor syndrome but also other neurogenetic disorders.\" \/>\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-april-srcap\/\" \/>\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 - April: SRCAP - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"Depending on the position of mutations, variants of the SRCAP gene do not only cause Floating Harbor syndrome but also other neurogenetic disorders.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-april-srcap\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2021-05-04T07:18:26+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=\"1 minute\" \/>\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-april-srcap\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-april-srcap\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/2273960540ea0d585310d12c8277e5cb\"},\"headline\":\"Gene of the Month &#8211; 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