{"id":653,"date":"2014-04-18T01:57:05","date_gmt":"2014-04-18T01:57:05","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=653"},"modified":"2026-02-25T19:46:20","modified_gmt":"2026-02-25T19:46:20","slug":"pathogenic-mutations-in-gli2-cause-a-specific-phenotype-that-is-distinct-from-holoprosencephaly","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2014\/04\/18\/pathogenic-mutations-in-gli2-cause-a-specific-phenotype-that-is-distinct-from-holoprosencephaly\/","title":{"rendered":"Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly (Contributed by Kelly Bear)"},"content":{"rendered":"

Mutations in GLI2 <\/em>have been associated with holoprosencephaly (HPE), a neuroanatomic anomaly resulting from incomplete cleavage of the developing forebrain, and an HPE-like phenotype involving pituitary anomalies and polydactyly. We collected the largest sample to date of individuals with variants affecting GLI2 <\/em>and characterized their phenotype. This included previously published cases as well as new unpublished individuals. We found that individuals with mutations resulting in loss of function rather (versus those with variants of unknown significance) typically had a narrow phenotype including polydactyly and pituitary anomalies as well as subtle facial features, as opposed to frank HPE. (http:\/\/jmg.bmj.com\/content\/early\/2014\/04\/17\/jmedgenet-2013-102249<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Mutations in GLI2 have been associated with holoprosencephaly (HPE), a neuroanatomic anomaly resulting from incomplete cleavage of the developing forebrain, and an HPE-like phenotype involving pituitary anomalies and polydactyly. We collected the largest sample to date of individuals with variants affecting GLI2 and characterized their phenotype. This included previously published cases as well as new […]<\/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-653","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nPathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly (Contributed by Kelly Bear) - 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\/2014\/04\/18\/pathogenic-mutations-in-gli2-cause-a-specific-phenotype-that-is-distinct-from-holoprosencephaly\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly (Contributed by Kelly Bear) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Mutations in GLI2 have been associated with holoprosencephaly (HPE), a neuroanatomic anomaly resulting from incomplete cleavage of the developing forebrain, and an HPE-like phenotype involving pituitary anomalies and polydactyly. We collected the largest sample to date of individuals with variants affecting GLI2 and characterized their phenotype. This included previously published cases as well as new [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2014\/04\/18\/pathogenic-mutations-in-gli2-cause-a-specific-phenotype-that-is-distinct-from-holoprosencephaly\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2014-04-18T01:57:05+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T19:46:20+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\\\/2014\\\/04\\\/18\\\/pathogenic-mutations-in-gli2-cause-a-specific-phenotype-that-is-distinct-from-holoprosencephaly\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/04\\\/18\\\/pathogenic-mutations-in-gli2-cause-a-specific-phenotype-that-is-distinct-from-holoprosencephaly\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly (Contributed by Kelly Bear)\",\"datePublished\":\"2014-04-18T01:57:05+00:00\",\"dateModified\":\"2026-02-25T19:46:20+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/04\\\/18\\\/pathogenic-mutations-in-gli2-cause-a-specific-phenotype-that-is-distinct-from-holoprosencephaly\\\/\"},\"wordCount\":122,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/04\\\/18\\\/pathogenic-mutations-in-gli2-cause-a-specific-phenotype-that-is-distinct-from-holoprosencephaly\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/04\\\/18\\\/pathogenic-mutations-in-gli2-cause-a-specific-phenotype-that-is-distinct-from-holoprosencephaly\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/04\\\/18\\\/pathogenic-mutations-in-gli2-cause-a-specific-phenotype-that-is-distinct-from-holoprosencephaly\\\/\",\"name\":\"Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly (Contributed by Kelly Bear) - 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