{"id":403,"date":"2012-11-02T17:49:08","date_gmt":"2012-11-02T17:49:08","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=403"},"modified":"2026-02-25T20:27:15","modified_gmt":"2026-02-25T20:27:15","slug":"two-novel-ccdc88c-mutations-confirm-the-role-of-daple-in-autosomal-recessive-congenital-hydrocephalus","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2012\/11\/02\/two-novel-ccdc88c-mutations-confirm-the-role-of-daple-in-autosomal-recessive-congenital-hydrocephalus\/","title":{"rendered":"Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus (Contributed by Drielsma Ana\u00efs)"},"content":{"rendered":"<p>Hydrocephalus is an abnormal expansion of brain cavities (ventricles) resulting from\u00a0the accumulation of cerebrospinal fluid. It can cause severe motor and intellectual deficiency. Some cases result from an inherited, genetic defect, and a mutation of the CCDC88C gene has been associated with hydrocephalus in one family.<\/p>\n<p>We report two families with multiple cases of hydrocephalus where we describe two novel mutations of this gene. One mutation affected only a small, terminal portion of the gene product. Our study confirms the causal association of CCDC88C with hydrocephalus, and underscores the important role of its terminal portion for normal gene function. (<a href=\"http:\/\/jmg.bmj.com\/content\/49\/11\/708\">http:\/\/jmg.bmj.com\/content\/49\/11\/708<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Hydrocephalus is an abnormal expansion of brain cavities (ventricles) resulting from\u00a0the accumulation of cerebrospinal fluid. It can cause severe motor and intellectual deficiency. Some cases result from an inherited, genetic defect, and a mutation of the CCDC88C gene has been associated with hydrocephalus in one family. We report two families with multiple cases of hydrocephalus [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2012\/11\/02\/two-novel-ccdc88c-mutations-confirm-the-role-of-daple-in-autosomal-recessive-congenital-hydrocephalus\/\">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-403","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus (Contributed by Drielsma Ana\u00efs) - 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\/2012\/11\/02\/two-novel-ccdc88c-mutations-confirm-the-role-of-daple-in-autosomal-recessive-congenital-hydrocephalus\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus (Contributed by Drielsma Ana\u00efs) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Hydrocephalus is an abnormal expansion of brain cavities (ventricles) resulting from\u00a0the accumulation of cerebrospinal fluid. It can cause severe motor and intellectual deficiency. Some cases result from an inherited, genetic defect, and a mutation of the CCDC88C gene has been associated with hydrocephalus in one family. We report two families with multiple cases of hydrocephalus [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2012\/11\/02\/two-novel-ccdc88c-mutations-confirm-the-role-of-daple-in-autosomal-recessive-congenital-hydrocephalus\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2012-11-02T17:49:08+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:27:15+00:00\" \/>\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\\\/2012\\\/11\\\/02\\\/two-novel-ccdc88c-mutations-confirm-the-role-of-daple-in-autosomal-recessive-congenital-hydrocephalus\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/11\\\/02\\\/two-novel-ccdc88c-mutations-confirm-the-role-of-daple-in-autosomal-recessive-congenital-hydrocephalus\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus (Contributed by Drielsma Ana\u00efs)\",\"datePublished\":\"2012-11-02T17:49:08+00:00\",\"dateModified\":\"2026-02-25T20:27:15+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/11\\\/02\\\/two-novel-ccdc88c-mutations-confirm-the-role-of-daple-in-autosomal-recessive-congenital-hydrocephalus\\\/\"},\"wordCount\":127,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/11\\\/02\\\/two-novel-ccdc88c-mutations-confirm-the-role-of-daple-in-autosomal-recessive-congenital-hydrocephalus\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/11\\\/02\\\/two-novel-ccdc88c-mutations-confirm-the-role-of-daple-in-autosomal-recessive-congenital-hydrocephalus\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/11\\\/02\\\/two-novel-ccdc88c-mutations-confirm-the-role-of-daple-in-autosomal-recessive-congenital-hydrocephalus\\\/\",\"name\":\"Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus (Contributed by Drielsma Ana\u00efs) - 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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":"Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus (Contributed by Drielsma Ana\u00efs) - 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\/2012\/11\/02\/two-novel-ccdc88c-mutations-confirm-the-role-of-daple-in-autosomal-recessive-congenital-hydrocephalus\/","og_locale":"en_US","og_type":"article","og_title":"Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus (Contributed by Drielsma Ana\u00efs) - JMG Contact blog","og_description":"Hydrocephalus is an abnormal expansion of brain cavities (ventricles) resulting from\u00a0the accumulation of cerebrospinal fluid. 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