{"id":422,"date":"2012-12-15T05:39:21","date_gmt":"2012-12-15T05:39:21","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=422"},"modified":"2026-02-25T20:24:39","modified_gmt":"2026-02-25T20:24:39","slug":"mutation-in-mpdz-causes-severe-congenital-hydrocephalus","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2012\/12\/15\/mutation-in-mpdz-causes-severe-congenital-hydrocephalus\/","title":{"rendered":"Mutation in MPDZ causes severe congenital hydrocephalus (Contributed by Fowzan S Alkuraya, MD FAAP FACMG)"},"content":{"rendered":"

Congenital hydrocephalus is an important birth defect where there is abnormal accumulation of fluid within the brain and is often associated with abnormal neurological outcome.\u00a0 Causes of isolated forms of congenital hydrocephalus are many including genetic causes but only two genes have been reported to date (L1CAM and CCDC88C).\u00a0 In this study, the authors add a third gene they identified by studying a family with multiple affected children and independently confirmed it in another family.\u00a0 This finding contributes to solving the genetics of this birth defect and provides affected families with information they can potentially use for pursuing informed reproductive choices. (http:\/\/jmg.bmj.com\/content\/50\/1\/54<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Congenital hydrocephalus is an important birth defect where there is abnormal accumulation of fluid within the brain and is often associated with abnormal neurological outcome.\u00a0 Causes of isolated forms of congenital hydrocephalus are many including genetic causes but only two genes have been reported to date (L1CAM and CCDC88C).\u00a0 In this study, the authors add […]<\/p>\n

Read More…<\/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-422","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nMutation in MPDZ causes severe congenital hydrocephalus (Contributed by Fowzan S Alkuraya, MD FAAP FACMG) - 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\/12\/15\/mutation-in-mpdz-causes-severe-congenital-hydrocephalus\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mutation in MPDZ causes severe congenital hydrocephalus (Contributed by Fowzan S Alkuraya, MD FAAP FACMG) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Congenital hydrocephalus is an important birth defect where there is abnormal accumulation of fluid within the brain and is often associated with abnormal neurological outcome.\u00a0 Causes of isolated forms of congenital hydrocephalus are many including genetic causes but only two genes have been reported to date (L1CAM and CCDC88C).\u00a0 In this study, the authors add [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2012\/12\/15\/mutation-in-mpdz-causes-severe-congenital-hydrocephalus\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2012-12-15T05:39:21+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:24:39+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\\\/12\\\/15\\\/mutation-in-mpdz-causes-severe-congenital-hydrocephalus\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/12\\\/15\\\/mutation-in-mpdz-causes-severe-congenital-hydrocephalus\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Mutation in MPDZ causes severe congenital hydrocephalus (Contributed by Fowzan S Alkuraya, MD FAAP FACMG)\",\"datePublished\":\"2012-12-15T05:39:21+00:00\",\"dateModified\":\"2026-02-25T20:24:39+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/12\\\/15\\\/mutation-in-mpdz-causes-severe-congenital-hydrocephalus\\\/\"},\"wordCount\":123,\"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\\\/12\\\/15\\\/mutation-in-mpdz-causes-severe-congenital-hydrocephalus\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/12\\\/15\\\/mutation-in-mpdz-causes-severe-congenital-hydrocephalus\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/12\\\/15\\\/mutation-in-mpdz-causes-severe-congenital-hydrocephalus\\\/\",\"name\":\"Mutation in MPDZ causes severe congenital hydrocephalus (Contributed by Fowzan S Alkuraya, MD FAAP FACMG) - 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