{"id":13322,"date":"2024-02-05T10:36:42","date_gmt":"2024-02-05T09:36:42","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=13322"},"modified":"2024-02-05T10:36:42","modified_gmt":"2024-02-05T09:36:42","slug":"gene-of-the-month-january-fgfr2","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-january-fgfr2\/","title":{"rendered":"Gene of the Month \u2013 January: FGFR2"},"content":{"rendered":"<p>A postzygotic variant in <em>FGFR2<\/em> has been identified as the cause of a mosaic neurocutaneous disorder. Researchers at the Institute of Human Genetics G\u00f6ttingen uncovered the variant as the disease-causing genetic defect in a patient with skin anomalies (nevi), eye malformations, macrocephaly and mild developmental delay and they showed in functional analyses that the variant results in constitutive activation of the encoded receptor protein. Clinically, the girl had been diagnosed with a suspected Schimmelpenning-Feuerstein-Mims syndrome. Exome sequencing on DNA from blood and from affected skin tissue revealed the variant in <em>FGFR2<\/em>, allowing the molecular diagnosis. <em>FGFR2<\/em> should thus be considered in the molecular diagnostics in patients with a suspected mosaic neurocutaneous disorder.<\/p>\n<p>FGFR2 is a member of the family of fibroblast growth factor receptors. These proteins bind fibroblast growth factors, triggering various downstream intracellular signaling cascades including the Ras\/Raf\/MAPK and the PI3K-Akt signaling pathways. FGFRs are thus centrally involved in many fundamental cellular processes. FGFR2 plays an important role in embryonic development and also in the adult organism, for example in tumorgenesis and angiogenesis. Heterozygous germline variants in <em>FGFR2<\/em> have been described as causing various autosomal dominantly inherited syndromes associated with craniosynostosis (premature closing of sutures) and skeletal malformations.<\/p>\n<p>The results of the study were published in <em>Human Genetics<\/em>.<\/p>\n[vc_column_text]Schmidt J, Kaulfu\u00df S, Ott H, Gaubert M, Reintjes N, Bremmer F, Dreha-Kulaczewski S, Stroebel P, Yigit G, Wollnik B. Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes. <em>Hum Genet.<\/em> 2024 Jan 24. doi: 10.1007\/s00439-023-02634-1. 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\/38265560&#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 variant in FGFR2 has been identified as the cause of a mosaic neurocutaneous disorder. Researchers at the Institute of Human Genetics G\u00f6ttingen uncovered the variant as the disease-causing genetic defect in a patient with skin anomalies (nevi), eye malformations, macrocephaly and mild developmental delay and they showed in functional analyses that the variant [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[54],"tags":[],"class_list":["post-13322","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 \u2013 January: FGFR2 - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"A postzygotic variant in FGFR2 has been identified as the cause of a mosaic neurocutaneous disorder.\" \/>\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-fgfr2\/\" \/>\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 \u2013 January: FGFR2 - 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