{"id":11678,"date":"2020-10-02T15:40:06","date_gmt":"2020-10-02T13:40:06","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=11678"},"modified":"2020-10-02T15:40:06","modified_gmt":"2020-10-02T13:40:06","slug":"gene-of-the-month-september-lmnb1","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-september-lmnb1\/","title":{"rendered":"Gene of the Month &#8211; September: LMNB1"},"content":{"rendered":"<p><em>LMNB1<\/em> is a gene that plays an important role in maintaining nuclear envelope stability and in regulating gene expression and is thereby also involved in nervous system development, among other processes. An international study published in the <em>American Journal of Human Genetics<\/em> now reports on <em>de novo<\/em> mutations in <em>LMNB1<\/em> as the cause of severe microcephaly. The authors of the study identified three missense <em>LMNB1<\/em> mutations in patients with pronounced primary microcephaly associated with relative short stature, intellectual disability and neurological features as the core symptoms. At a functional level, their experiments showed that the identified variants cause several structural changes in the nuclear lamina and revealed for example an increased frequency of mishappen or condensed nuclei.<\/p>\n<p>Lamin B, the protein encoded by <em>LMNB1<\/em>, forms an important component of the nuclear lamina. This lamina is a network of structural proteins lining the inner surface of the nuclear membrane. It contributes to nuclear stability, which must be maintained to enable fundamental processes such as DNA replication, transcription or chromatin organization. <em>LMNB1<\/em> variants have previously been associated with autosomal dominant leukodystrophy, a human disorder similar to multiple sclerosis.<\/p>\n[vc_column_text] Cristofoli F, Moss T, Moore HW, \u2026, Van Esch H. De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity. <em>Am J Hum Genet.<\/em> 2020 Sep 1:S0002-9297(20)30284-6. doi: 10.1016\/j.ajhg.2020.08.015. Online 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\/32910914&#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>LMNB1 is a gene that plays an important role in maintaining nuclear envelope stability and in regulating gene expression and is thereby also involved in nervous system development, among other processes. An international study published in the American Journal of Human Genetics now reports on de novo mutations in LMNB1 as the cause of severe [&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-11678","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 - September: LMNB1 - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"An international study reports on de novo mutations in LMNB1 as the cause of severe microcephaly.\" \/>\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-september-lmnb1\/\" \/>\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 - September: LMNB1 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"An international study reports on de novo mutations in LMNB1 as the cause of severe microcephaly.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-september-lmnb1\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2020-10-02T13:40:06+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-september-lmnb1\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-september-lmnb1\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"headline\":\"Gene of the Month &#8211; 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