{"id":1786,"date":"2022-11-04T13:44:40","date_gmt":"2022-11-04T13:44:40","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1786"},"modified":"2026-02-23T00:37:28","modified_gmt":"2026-02-23T00:37:28","slug":"indepth-characterization-of-a-cohort-of-individuals-with-missense-and-loss-of-function-variants-disrupting-foxp2","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2022\/11\/04\/indepth-characterization-of-a-cohort-of-individuals-with-missense-and-loss-of-function-variants-disrupting-foxp2\/","title":{"rendered":"Indepth characterization of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2 (Contributed by Lottie Morison)"},"content":{"rendered":"<p>Heterozygous disruptions of <em>FOXP2<\/em> were the first identified molecular cause for severe speech disorder; childhood apraxia of speech (CAS), yet few cases have been reported. We phenotyped 28 individuals from 17 families with pathogenic <em>FOXP2<\/em>-only variants. Speech disorders were prevalent into adulthood; with CAS the most common diagnosis. Cognition (average to mildly impaired) was incongruent with language ability (average to severely impaired). There was an increased prevalence of anxiety, depression, and sleep disturbance, but <em>FOXP2<\/em> dysfunction remains relatively specific to speech disorder. Thus, we reinforce that <em>FOXP2<\/em> provides a valuable entry point for examining the neurobiological bases of speech disorder. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2022\/11\/03\/jmg-2022-108734\">https:\/\/jmg.bmj.com\/content\/early\/2022\/11\/03\/jmg-2022-108734<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/11\/04\/indepth-characterization-of-a-cohort-of-individuals-with-missense-and-loss-of-function-variants-disrupting-foxp2\/untitled-63\/\" rel=\"attachment wp-att-1787\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1787\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/11\/Untitled-300x251.jpg\" alt=\"\" width=\"300\" height=\"251\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/11\/Untitled-300x251.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/11\/Untitled-1024x856.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/11\/Untitled-768x642.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/11\/Untitled-640x535.jpg 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/11\/Untitled.jpg 1449w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Heterozygous disruptions of FOXP2 were the first identified molecular cause for severe speech disorder; childhood apraxia of speech (CAS), yet few cases have been reported. We phenotyped 28 individuals from 17 families with pathogenic FOXP2-only variants. Speech disorders were prevalent into adulthood; with CAS the most common diagnosis. Cognition (average to mildly impaired) was incongruent [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/11\/04\/indepth-characterization-of-a-cohort-of-individuals-with-missense-and-loss-of-function-variants-disrupting-foxp2\/\">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-1786","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Indepth characterization of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2 (Contributed by Lottie Morison) - 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\/2022\/11\/04\/indepth-characterization-of-a-cohort-of-individuals-with-missense-and-loss-of-function-variants-disrupting-foxp2\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Indepth characterization of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2 (Contributed by Lottie Morison) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Heterozygous disruptions of FOXP2 were the first identified molecular cause for severe speech disorder; childhood apraxia of speech (CAS), yet few cases have been reported. We phenotyped 28 individuals from 17 families with pathogenic FOXP2-only variants. Speech disorders were prevalent into adulthood; with CAS the most common diagnosis. Cognition (average to mildly impaired) was incongruent [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2022\/11\/04\/indepth-characterization-of-a-cohort-of-individuals-with-missense-and-loss-of-function-variants-disrupting-foxp2\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2022-11-04T13:44:40+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:37:28+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/11\/Untitled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1449\" \/>\n\t<meta property=\"og:image:height\" content=\"1211\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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\\\/2022\\\/11\\\/04\\\/indepth-characterization-of-a-cohort-of-individuals-with-missense-and-loss-of-function-variants-disrupting-foxp2\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/11\\\/04\\\/indepth-characterization-of-a-cohort-of-individuals-with-missense-and-loss-of-function-variants-disrupting-foxp2\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Indepth characterization of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2 (Contributed by Lottie Morison)\",\"datePublished\":\"2022-11-04T13:44:40+00:00\",\"dateModified\":\"2026-02-23T00:37:28+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/11\\\/04\\\/indepth-characterization-of-a-cohort-of-individuals-with-missense-and-loss-of-function-variants-disrupting-foxp2\\\/\"},\"wordCount\":125,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/11\\\/04\\\/indepth-characterization-of-a-cohort-of-individuals-with-missense-and-loss-of-function-variants-disrupting-foxp2\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2022\\\/11\\\/Untitled-300x251.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/11\\\/04\\\/indepth-characterization-of-a-cohort-of-individuals-with-missense-and-loss-of-function-variants-disrupting-foxp2\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/11\\\/04\\\/indepth-characterization-of-a-cohort-of-individuals-with-missense-and-loss-of-function-variants-disrupting-foxp2\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/11\\\/04\\\/indepth-characterization-of-a-cohort-of-individuals-with-missense-and-loss-of-function-variants-disrupting-foxp2\\\/\",\"name\":\"Indepth characterization of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2 (Contributed by Lottie Morison) - 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