{"id":11341,"date":"2020-01-07T11:05:48","date_gmt":"2020-01-07T10:05:48","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=11341"},"modified":"2020-01-07T11:05:48","modified_gmt":"2020-01-07T10:05:48","slug":"gene-of-the-month-december-rhoa","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-december-rhoa\/","title":{"rendered":"Gene of the Month &#8211; December: RHOA"},"content":{"rendered":"<p>A postzygotic mutation in <em>RHOA<\/em> has been identified as the genetic cause of a distinct mosaic disorder in humans. RHOA is a member of the Rho family of GTPases, which have many roles in coordinating fundamental cellular processes including cell adhesion, migration and proliferation. RHOA can stimulate the formation of actin stress fibers and focal adhesions and is a key protein in the regulation of changes in the actin cytoskeleton in various tissues.<\/p>\n<p>In a recently published study with major contribution by the Institute of Human Genetics at the University Medical Center G\u00f6ttingen, the web-based platform GeneMatcher brought together international research groups investigating four patients with a similar phenotype. The affected individuals showed hypopigmentation of the skin, dental anomalies, body asymmetry, and limb length discrepancy as well as brain magnetic resonance imaging (MRI) anomalies. In their genetic studies, the researchers performed whole-exome and ultra-deep amplicon sequencing and compared data generated from samples of both, affected and unaffected areas of the skin. As a result, they discovered the identical postzygotic missense variant of the <em>RHOA<\/em> gene in all four patients. <em>In silico<\/em> analysis indicated that this variant causes a specific change in RHOA interaction with downstream effectors and thus impairs signaling activation.<\/p>\n<p>The results of the study have been published in <em>Human Mutation<\/em>.<\/p>\n[vc_column_text] Yigit G, Saida K, DeMarzo D, \u2026 Wollnik B, Matsumoto N, Altm\u00fcller J. The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype. <em>Hum Mutat.<\/em> 2019 Dec 10. doi: 10.1002\/humu.23964. [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\/31821646&#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 postzygotic mutation in RHOA has been identified as the genetic cause of a distinct mosaic disorder in humans. RHOA is a member of the Rho family of GTPases, which have many roles in coordinating fundamental cellular processes including cell adhesion, migration and proliferation. RHOA can stimulate the formation of actin stress fibers and focal [&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-11341","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 - December: RHOA - 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\/gene-of-the-month-december-rhoa\/\" \/>\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 - December: RHOA - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"A postzygotic mutation in RHOA has been identified as the genetic cause of a distinct mosaic disorder in humans. 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