{"id":705,"date":"2014-12-05T22:23:33","date_gmt":"2014-12-05T22:23:33","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=705"},"modified":"2026-02-25T19:35:12","modified_gmt":"2026-02-25T19:35:12","slug":"ctnnd2-a-candidate-gene-for-reading-problems-and-mild-intellectual-disability","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2014\/12\/05\/ctnnd2-a-candidate-gene-for-reading-problems-and-mild-intellectual-disability\/","title":{"rendered":"CTNND2\u2014a candidate gene for reading problems and mild intellectual disability (Contributed by Dr. Anna Lindstrand)"},"content":{"rendered":"<p>In a small subset of patients, apparently balanced structural chromosome rearrangements may associate with neurocognitive problems ranging from mild (ADHD, dyslexia) to severe (within the autism spectrum disorders and intellectual disability). Here, we use low coverage massive parallel whole genome sequencing and microarray analysis to identify hemizygous loss of <em>CTNND2<\/em> in three individuals from two unrelated families who show borderline to moderate intellectual dysfunction and specific problems with reading. The gene was first identified by whole genome sequencing in a carrier of two balanced reciprocal chromosomal translocations, t(1;8)(p22;q24) and t(5;18)(p15;q11). We then demonstrate an effect of <em>CTNND2<\/em> polymorphisms on normal reading ability and normal variability in white matter volume. Finally, we show that the loss of CTNND2 function in zebrafish results in ectopic neurons, indicative of abnormal neuronal migration. Our work indicates that isolated <em>CTNND2<\/em> mutations lead to learning difficulties, in particular reading disability. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2014\/12\/03\/jmedgenet-2014-102757\">http:\/\/jmg.bmj.com\/content\/early\/2014\/12\/03\/jmedgenet-2014-102757<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>In a small subset of patients, apparently balanced structural chromosome rearrangements may associate with neurocognitive problems ranging from mild (ADHD, dyslexia) to severe (within the autism spectrum disorders and intellectual disability). Here, we use low coverage massive parallel whole genome sequencing and microarray analysis to identify hemizygous loss of CTNND2 in three individuals from two [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2014\/12\/05\/ctnnd2-a-candidate-gene-for-reading-problems-and-mild-intellectual-disability\/\">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-705","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>CTNND2\u2014a candidate gene for reading problems and mild intellectual disability (Contributed by Dr. Anna Lindstrand) - 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\/12\/05\/ctnnd2-a-candidate-gene-for-reading-problems-and-mild-intellectual-disability\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"CTNND2\u2014a candidate gene for reading problems and mild intellectual disability (Contributed by Dr. Anna Lindstrand) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"In a small subset of patients, apparently balanced structural chromosome rearrangements may associate with neurocognitive problems ranging from mild (ADHD, dyslexia) to severe (within the autism spectrum disorders and intellectual disability). Here, we use low coverage massive parallel whole genome sequencing and microarray analysis to identify hemizygous loss of CTNND2 in three individuals from two [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2014\/12\/05\/ctnnd2-a-candidate-gene-for-reading-problems-and-mild-intellectual-disability\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2014-12-05T22:23:33+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T19:35:12+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\\\/12\\\/05\\\/ctnnd2-a-candidate-gene-for-reading-problems-and-mild-intellectual-disability\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/12\\\/05\\\/ctnnd2-a-candidate-gene-for-reading-problems-and-mild-intellectual-disability\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"CTNND2\u2014a candidate gene for reading problems and mild intellectual disability (Contributed by Dr. Anna Lindstrand)\",\"datePublished\":\"2014-12-05T22:23:33+00:00\",\"dateModified\":\"2026-02-25T19:35:12+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/12\\\/05\\\/ctnnd2-a-candidate-gene-for-reading-problems-and-mild-intellectual-disability\\\/\"},\"wordCount\":172,\"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\\\/12\\\/05\\\/ctnnd2-a-candidate-gene-for-reading-problems-and-mild-intellectual-disability\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/12\\\/05\\\/ctnnd2-a-candidate-gene-for-reading-problems-and-mild-intellectual-disability\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/12\\\/05\\\/ctnnd2-a-candidate-gene-for-reading-problems-and-mild-intellectual-disability\\\/\",\"name\":\"CTNND2\u2014a candidate gene for reading problems and mild intellectual disability (Contributed by Dr. Anna Lindstrand) - 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