{"id":11494,"date":"2020-06-04T09:31:01","date_gmt":"2020-06-04T07:31:01","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=11494"},"modified":"2020-06-04T09:31:01","modified_gmt":"2020-06-04T07:31:01","slug":"gene-of-the-month-may-fbrsl1","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-may-fbrsl1\/","title":{"rendered":"Gene of the Month &#8211; May: FBRSL1"},"content":{"rendered":"<p>Mutations in the <em>FBRSL1<\/em> gene cause a previously undescribed syndrome associated with malformations and intellectual disability. A study led by scientists of the Institute of Human Genetics at the University Medical Center G\u00f6ttingen identified <em>de novo<\/em> truncating mutations in <em>FBRSL1<\/em> in three children of unrelated families. They presented an overlapping phenotype of respiratory problems, postnatal growth retardation, microcephaly, global developmental delay and additional malformations.<\/p>\n<p>FBRSL1 and its paralog AUTS2 are components of the same polycomb subcomplexes. They are thus members of the large family of polycomb group proteins, which assemble to form two large molecular complexes. Acting via histone modifications, these complexes have essential roles in regulating cell type-specific gene expression and controlling cellular development, differentiation and proliferation. Mutations in proteins of the PRC1 and PRC2 polycomb complexes have been reported to cause different syndromic disorders, but until now FBRSL1 has not been linked to a disease and its function has remained largely unknown.<\/p>\n<p>Further experiments have now revealed new insights into different FBRSL1 transcripts and the subcellular localization of protein isoforms. The researchers also perfomed experiments in <em>Xenopus<\/em> frog embryos to investigate the protein function and they showed that knockdown of the gene resulted in craniofacial anomalies and disturbed neurite outgrowth. From their findings, the authors of the study conclude that disruption of the N-terminal isoforms at critical points during embryogenesis lead to a previously undescribed neurodevelopmental syndrome.<\/p>\n<p>The results of the study have been published in <em>Human Genetics<\/em>.<\/p>\n[vc_column_text] Ufartes R, Berger H, Till K, Salinas G, Sturm M, Altm\u00fcller J, N\u00fcrnberg P, Thiele H, Funke R, Apeshiotis N, Langen H, Wollnik B, Borchers A, Pauli S. De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome. <em>Hum Genet.<\/em> 2020 May 18. doi: 10.1007\/s00439-020-02175-x. 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\/32424618&#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>Mutations in the FBRSL1 gene cause a previously undescribed syndrome associated with malformations and intellectual disability. A study led by scientists of the Institute of Human Genetics at the University Medical Center G\u00f6ttingen identified de novo truncating mutations in FBRSL1 in three children of unrelated families. They presented an overlapping phenotype of respiratory problems, postnatal [&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-11494","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 - May: FBRSL1 - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"Mutations in the FBRSL1 gene cause a previously undescribed syndrome associated with malformations and intellectual disability.\" \/>\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-may-fbrsl1\/\" \/>\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 - May: FBRSL1 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"Mutations in the FBRSL1 gene cause a previously undescribed syndrome associated with malformations and intellectual disability.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-may-fbrsl1\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2020-06-04T07:31:01+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-may-fbrsl1\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-may-fbrsl1\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"headline\":\"Gene of the Month &#8211; 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