{"id":339,"date":"2012-07-11T23:46:34","date_gmt":"2012-07-11T23:46:34","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=339"},"modified":"2026-02-25T20:36:03","modified_gmt":"2026-02-25T20:36:03","slug":"genotypic-and-phenotypic-analysis-of-396-individuals-with-mutations-in-sonic-hedgehog","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2012\/07\/11\/genotypic-and-phenotypic-analysis-of-396-individuals-with-mutations-in-sonic-hedgehog\/","title":{"rendered":"Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog (Contributed by Maximilian Muenke, M.D.)"},"content":{"rendered":"

Holoprosencephaly is a common human brain malformation; there are many different known causes.\u00a0 Sonic Hedgehog<\/em> was the first gene in which mutations were found to cause holoprosencephaly .\u00a0 Some individuals with Sonic Hedgehog mutations have very severe brain and facial malformations, and do not survive to be born.\u00a0 However, some people have only subtle facial differences.\u00a0 We examined almost all known individuals (almost 400 total) with Sonic Hedgehog <\/em>mutations, and describe the clinical manifestations.\u00a0 We found that certain types of Sonic Hedgehog<\/em> mutations tend to cause severe disease, while other types of mutations are more likely to cause milder findings. (http:\/\/jmg.bmj.com\/content\/49\/7\/473<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Holoprosencephaly is a common human brain malformation; there are many different known causes.\u00a0 Sonic Hedgehog was the first gene in which mutations were found to cause holoprosencephaly .\u00a0 Some individuals with Sonic Hedgehog mutations have very severe brain and facial malformations, and do not survive to be born.\u00a0 However, some people have only subtle facial […]<\/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-339","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nGenotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog (Contributed by Maximilian Muenke, M.D.) - 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\/07\/11\/genotypic-and-phenotypic-analysis-of-396-individuals-with-mutations-in-sonic-hedgehog\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog (Contributed by Maximilian Muenke, M.D.) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Holoprosencephaly is a common human brain malformation; there are many different known causes.\u00a0 Sonic Hedgehog was the first gene in which mutations were found to cause holoprosencephaly .\u00a0 Some individuals with Sonic Hedgehog mutations have very severe brain and facial malformations, and do not survive to be born.\u00a0 However, some people have only subtle facial [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2012\/07\/11\/genotypic-and-phenotypic-analysis-of-396-individuals-with-mutations-in-sonic-hedgehog\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2012-07-11T23:46:34+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:36:03+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\\\/07\\\/11\\\/genotypic-and-phenotypic-analysis-of-396-individuals-with-mutations-in-sonic-hedgehog\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/07\\\/11\\\/genotypic-and-phenotypic-analysis-of-396-individuals-with-mutations-in-sonic-hedgehog\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog (Contributed by Maximilian Muenke, M.D.)\",\"datePublished\":\"2012-07-11T23:46:34+00:00\",\"dateModified\":\"2026-02-25T20:36:03+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/07\\\/11\\\/genotypic-and-phenotypic-analysis-of-396-individuals-with-mutations-in-sonic-hedgehog\\\/\"},\"wordCount\":120,\"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\\\/07\\\/11\\\/genotypic-and-phenotypic-analysis-of-396-individuals-with-mutations-in-sonic-hedgehog\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/07\\\/11\\\/genotypic-and-phenotypic-analysis-of-396-individuals-with-mutations-in-sonic-hedgehog\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/07\\\/11\\\/genotypic-and-phenotypic-analysis-of-396-individuals-with-mutations-in-sonic-hedgehog\\\/\",\"name\":\"Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog (Contributed by Maximilian Muenke, M.D.) - 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