{"id":12755,"date":"2023-02-03T11:14:33","date_gmt":"2023-02-03T10:14:33","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=12755"},"modified":"2023-02-03T11:14:33","modified_gmt":"2023-02-03T10:14:33","slug":"gene-of-the-month-january-fgf14","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-january-fgf14\/","title":{"rendered":"Gene of the Month &#8211; January: FGF14"},"content":{"rendered":"<p>A deep intronic GAA repeat expansion in the gene <em>FGF14<\/em> causes a form of cerebellar ataxia manifesting in adulthood. In a study published in the <em>New England Journal of Medicine<\/em>, scientists identified the molecular cause of an autosomal dominantly inherited late-onset cerebellar ataxia (LOCA) by combining various sequencing approaches and bioinformatic tools. LOCAs are a heterogeneous group of neurodegenerative disorders of the cerebellum, which start to develop after 30 years of age and are associated with progressive motor impairments. They are difficult to diagnose by molecular testing, with almost 75% of affected individuals remaining without a molecular diagnosis.<\/p>\n<p>In the current study, initial whole-genome sequencing in six patients identified the candidate pathogenic heterozygous GAA repeat expansion in intron 1 of <em>FGF14<\/em>. In a next step, the researchers performed cosegregation studies using long-range PCR and long-read sequencing and determined a threshold of at least 250 GAA repeats. Subsequent analyses in independent patient cohorts from Canada, Germany, Australia and India identified a total of 128 LOCA patients carrying this <em>FGF14<\/em> GAA repeat expansion. The study also included functional analyses in postmortem cerebellar tissue and motor neurons derived from induced pluripotent stem cells; they confirmed that the intronic GAA repeat expansion in <em>FGF14<\/em> leads to a loss of protein function. <em>FGF14<\/em> encodes fibroblast growth factor 14. This protein is expressed in the central nervous system, and specifically in cerebellar granule cells and Purkinje neurons, and interacts with voltage-gated sodium channels.<\/p>\n[vc_column_text]Pellerin D, Danzi MC, Wilke C, \u2026, Brais B. Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. <em>N Engl J Med.<\/em> 2023 Jan 12;388(2):128-141. doi: 10.1056\/NEJMoa2207406. Epub 2022 Dec 14. [\/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\/36516086&#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 deep intronic GAA repeat expansion in the gene FGF14 causes a form of cerebellar ataxia manifesting in adulthood. In a study published in the New England Journal of Medicine, scientists identified the molecular cause of an autosomal dominantly inherited late-onset cerebellar ataxia (LOCA) by combining various sequencing approaches and bioinformatic tools. LOCAs are a [&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-12755","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 - January: FGF14 - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"A deep intronic GAA repeat expansion in the gene FGF14 causes a form of cerebellar ataxia manifesting in adulthood.\" \/>\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-january-fgf14\/\" \/>\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 - January: FGF14 - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"A deep intronic GAA repeat expansion in the gene FGF14 causes a form of cerebellar ataxia manifesting in adulthood.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-january-fgf14\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2023-02-03T10:14:33+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-january-fgf14\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-january-fgf14\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/2273960540ea0d585310d12c8277e5cb\"},\"headline\":\"Gene of the Month &#8211; 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