{"id":325,"date":"2012-04-17T21:24:28","date_gmt":"2012-04-17T21:24:28","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=325"},"modified":"2026-02-25T20:37:31","modified_gmt":"2026-02-25T20:37:31","slug":"mutations-in-grip1-cause-fraser-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2012\/04\/17\/mutations-in-grip1-cause-fraser-syndrome\/","title":{"rendered":"Mutations in GRIP1 cause Fraser syndrome (Contributed by Dr. Maartje Vogel)"},"content":{"rendered":"<p>Fraser syndrome (FS) is a rare genetically heterogeneous recessive disorder. FS patients are born with severe malformations affecting their eyes (cryptophthalmos), skin covering the digits (cutaneous syndactyly), respiratory tract, kidneys and genitals. The molecular defect underlying the majority of FS patients is unknown. Thus far mutations in two genes (FRAS1 and FREM2) are known to cause Fraser Syndrome. We tested FS patients without a molecular diagnosis. In three patients we could pinpoint the genetic defect in the GRIP1 gene.\u00a0 This study demonstrates the involvement of GRIP1 in Fraser syndrome in humans. The results expand the possibilities for diagnostic testing and early prenatal diagnosis for Fraser syndrome patients and their families. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2012\/04\/16\/jmedgenet-2011-100590\">http:\/\/jmg.bmj.com\/content\/early\/2012\/04\/16\/jmedgenet-2011-100590<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Fraser syndrome (FS) is a rare genetically heterogeneous recessive disorder. FS patients are born with severe malformations affecting their eyes (cryptophthalmos), skin covering the digits (cutaneous syndactyly), respiratory tract, kidneys and genitals. The molecular defect underlying the majority of FS patients is unknown. Thus far mutations in two genes (FRAS1 and FREM2) are known to [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2012\/04\/17\/mutations-in-grip1-cause-fraser-syndrome\/\">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-325","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Mutations in GRIP1 cause Fraser syndrome (Contributed by Dr. Maartje Vogel) - 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\/04\/17\/mutations-in-grip1-cause-fraser-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mutations in GRIP1 cause Fraser syndrome (Contributed by Dr. Maartje Vogel) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Fraser syndrome (FS) is a rare genetically heterogeneous recessive disorder. FS patients are born with severe malformations affecting their eyes (cryptophthalmos), skin covering the digits (cutaneous syndactyly), respiratory tract, kidneys and genitals. The molecular defect underlying the majority of FS patients is unknown. Thus far mutations in two genes (FRAS1 and FREM2) are known to [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2012\/04\/17\/mutations-in-grip1-cause-fraser-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2012-04-17T21:24:28+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:37:31+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\\\/04\\\/17\\\/mutations-in-grip1-cause-fraser-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/04\\\/17\\\/mutations-in-grip1-cause-fraser-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Mutations in GRIP1 cause Fraser syndrome (Contributed by Dr. Maartje Vogel)\",\"datePublished\":\"2012-04-17T21:24:28+00:00\",\"dateModified\":\"2026-02-25T20:37:31+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/04\\\/17\\\/mutations-in-grip1-cause-fraser-syndrome\\\/\"},\"wordCount\":129,\"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\\\/04\\\/17\\\/mutations-in-grip1-cause-fraser-syndrome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/04\\\/17\\\/mutations-in-grip1-cause-fraser-syndrome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/04\\\/17\\\/mutations-in-grip1-cause-fraser-syndrome\\\/\",\"name\":\"Mutations in GRIP1 cause Fraser syndrome (Contributed by Dr. Maartje Vogel) - 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