{"id":14865,"date":"2026-01-07T10:14:47","date_gmt":"2026-01-07T09:14:47","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=14865"},"modified":"2026-01-07T10:14:47","modified_gmt":"2026-01-07T09:14:47","slug":"gene-of-the-month-december-kdm2a","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-december-kdm2a\/","title":{"rendered":"Gene of the Month \u2013 December: KDM2A"},"content":{"rendered":"<p><em>De novo<\/em> variants in the <em>KDM2A<\/em> gene cause a syndromic neurodevelopmental disorder. Researchers identified disease-causing missense variants and variants predicted to result in loss of function in <em>KDM2A<\/em> in 18 patients exhibiting developmental delay and\/or intellectual disability of varying severity. Additional core features of the condition include primary microcephaly, congenital short stature, and feeding difficulties. The affected individuals also displayed recurrent, characteristic facial features.<\/p>\n<p>KDM2A belongs to the family of histone lysine demethylases (KDMs) and functions as an &#8220;eraser&#8221; within the epigenetic machinery: It specifically removes methylation marks from histones (H3K36me1\/2), thereby playing a crucial role in gene regulation and key cellular processes such as cell division, differentiation, and programmed cell death.<\/p>\n<p>The authors of the study, which was recently published in the <em>American Journal of Human Genetics<\/em>, investigated the disease-causing effects of identified <em>KDM2A<\/em> variants in experiments in human cells and a <em>Drosophila<\/em> model. Knockdown\/Knockout of the fly&#8217;s orthologous <em>Kdm2<\/em> gene (the counterpart to human <em>KDM2A\/KDM2B<\/em>) alone did not produce noticeable degenerative or motor phenotypes. However, introducing the pathogenic human <em>KDM2A<\/em> variant in addition led to neurodegeneration, motor deficits, and shortened lifespan. The researchers therefore assume a dual mechanism in which loss of KDM2A nuclear function is accompanied by cytoplasmic toxicity resulting from a gain of function of the p.Pro235Leu variant. Moreover, methylation profiling revealed a distinctive, <em>KDM2A<\/em>-specific episignature in the majority of their patients.<\/p>\n[vc_column_text] Anderson EN, Drukewitz S, Kour S, \u2026 Platzer K. De novo variants in KDM2A cause a syndromic neurodevelopmental disorder. <em>Am J Hum Genet.<\/em> 2025 Dec 29:S0002-9297(25)00475-6. doi: 10.1016\/j.ajhg.2025.12.004. Epub ahead of print. [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\/41468891&#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>De novo variants in the KDM2A gene cause a syndromic neurodevelopmental disorder. Researchers identified disease-causing missense variants and variants predicted to result in loss of function in KDM2A in 18 patients exhibiting developmental delay and\/or intellectual disability of varying severity. Additional core features of the condition include primary microcephaly, congenital short stature, and feeding difficulties. [&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-14865","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 December: KDM2A - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"De novo variants in the KDM2A gene cause a syndromic neurodevelopmental disorder, a recently published study reports.\" \/>\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-kdm2a\/\" \/>\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 December: KDM2A - 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