{"id":1705,"date":"2022-02-13T16:46:14","date_gmt":"2022-02-13T16:46:14","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1705"},"modified":"2026-02-23T01:04:05","modified_gmt":"2026-02-23T01:04:05","slug":"complete-loss-of-the-x-linked-gene-cask-causes-severe-cerebellar-degeneration","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/13\/complete-loss-of-the-x-linked-gene-cask-causes-severe-cerebellar-degeneration\/","title":{"rendered":"Complete loss of the X-linked gene CASK causes severe cerebellar degeneration (Contributed by Dr. Konark Mukherjee)"},"content":{"rendered":"<p>X-linked disorders like CASK-linked pontocerebellar hypoplasia and Rett syndrome, predominantly affecting girls, are presumed to be neurodevelopmental disorders. Here, by performing a detailed analysis of a boy without CASK and genetically ablating CASK from cerebellar neurons in mice, we demonstrate that CASK loss does not affect neuronal or brain development. Instead, CASK loss results in neuronal degeneration leading to cerebellar hypoplasia. We propose that X-linked disorders (like CASK mutation) previously assumed to be neurodevelopmental are actually neurodegenerative conditions. In girls with heterozygous mutation, random X-chromosome inactivation allows 50% of brain cells to express CASK, which disrupts the progression of neurodegeneration. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2022\/02\/10\/jmedgenet-2021-108115\">https:\/\/jmg.bmj.com\/content\/early\/2022\/02\/10\/jmedgenet-2021-108115<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/13\/complete-loss-of-the-x-linked-gene-cask-causes-severe-cerebellar-degeneration\/image-for-j-med-gen-blog-version-3\/\" rel=\"attachment wp-att-1706\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1706\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/Image-for-J-Med-Gen-Blog-Version-3-300x171.png\" alt=\"\" width=\"300\" height=\"171\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/Image-for-J-Med-Gen-Blog-Version-3-300x171.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/Image-for-J-Med-Gen-Blog-Version-3-1024x582.png 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/Image-for-J-Med-Gen-Blog-Version-3-768x437.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/Image-for-J-Med-Gen-Blog-Version-3-1536x873.png 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/Image-for-J-Med-Gen-Blog-Version-3-2048x1164.png 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/Image-for-J-Med-Gen-Blog-Version-3-640x364.png 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>X-linked disorders like CASK-linked pontocerebellar hypoplasia and Rett syndrome, predominantly affecting girls, are presumed to be neurodevelopmental disorders. Here, by performing a detailed analysis of a boy without CASK and genetically ablating CASK from cerebellar neurons in mice, we demonstrate that CASK loss does not affect neuronal or brain development. Instead, CASK loss results in [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/13\/complete-loss-of-the-x-linked-gene-cask-causes-severe-cerebellar-degeneration\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1705","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Complete loss of the X-linked gene CASK causes severe cerebellar degeneration (Contributed by Dr. Konark Mukherjee) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/13\/complete-loss-of-the-x-linked-gene-cask-causes-severe-cerebellar-degeneration\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Complete loss of the X-linked gene CASK causes severe cerebellar degeneration (Contributed by Dr. Konark Mukherjee) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"X-linked disorders like CASK-linked pontocerebellar hypoplasia and Rett syndrome, predominantly affecting girls, are presumed to be neurodevelopmental disorders. Here, by performing a detailed analysis of a boy without CASK and genetically ablating CASK from cerebellar neurons in mice, we demonstrate that CASK loss does not affect neuronal or brain development. Instead, CASK loss results in [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/13\/complete-loss-of-the-x-linked-gene-cask-causes-severe-cerebellar-degeneration\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2022-02-13T16:46:14+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T01:04:05+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/02\/Image-for-J-Med-Gen-Blog-Version-3-1024x582.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1024\" \/>\n\t<meta property=\"og:image:height\" content=\"582\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\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:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/13\\\/complete-loss-of-the-x-linked-gene-cask-causes-severe-cerebellar-degeneration\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/13\\\/complete-loss-of-the-x-linked-gene-cask-causes-severe-cerebellar-degeneration\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Complete loss of the X-linked gene CASK causes severe cerebellar degeneration (Contributed by Dr. Konark Mukherjee)\",\"datePublished\":\"2022-02-13T16:46:14+00:00\",\"dateModified\":\"2026-02-23T01:04:05+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/13\\\/complete-loss-of-the-x-linked-gene-cask-causes-severe-cerebellar-degeneration\\\/\"},\"wordCount\":123,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/13\\\/complete-loss-of-the-x-linked-gene-cask-causes-severe-cerebellar-degeneration\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2022\\\/02\\\/Image-for-J-Med-Gen-Blog-Version-3-300x171.png\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/13\\\/complete-loss-of-the-x-linked-gene-cask-causes-severe-cerebellar-degeneration\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/13\\\/complete-loss-of-the-x-linked-gene-cask-causes-severe-cerebellar-degeneration\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/02\\\/13\\\/complete-loss-of-the-x-linked-gene-cask-causes-severe-cerebellar-degeneration\\\/\",\"name\":\"Complete loss of the X-linked gene CASK causes severe cerebellar degeneration (Contributed by Dr. Konark Mukherjee) - 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His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Complete loss of the X-linked gene CASK causes severe cerebellar degeneration (Contributed by Dr. Konark Mukherjee) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2022\/02\/13\/complete-loss-of-the-x-linked-gene-cask-causes-severe-cerebellar-degeneration\/","og_locale":"en_US","og_type":"article","og_title":"Complete loss of the X-linked gene CASK causes severe cerebellar degeneration (Contributed by Dr. Konark Mukherjee) - JMG Contact blog","og_description":"X-linked disorders like CASK-linked pontocerebellar hypoplasia and Rett syndrome, predominantly affecting girls, are presumed to be neurodevelopmental disorders. 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