{"id":1104,"date":"2018-02-26T19:23:59","date_gmt":"2018-02-26T19:23:59","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1104"},"modified":"2026-02-24T15:58:30","modified_gmt":"2026-02-24T15:58:30","slug":"missense-variants-in-the-chromatin-remodeler-chd1-are-associated-with-neurodevelopmental-disability","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2018\/02\/26\/missense-variants-in-the-chromatin-remodeler-chd1-are-associated-with-neurodevelopmental-disability\/","title":{"rendered":"Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability (Contributed by Genay Pilarowski)"},"content":{"rendered":"<p>CHD1 is a chromatin remodeler which plays a role in ensuring chromatin accessibility across the genome in stem cells. Here we report that novel missense variants in <em>CHD1<\/em> are associated with a neurodevelopmental phenotype that includes autism, speech apraxia and hypotonia. <em>CHD1<\/em> has not previously been associated with such a phenotype and, interestingly, the location and class of disease causing variants identified in <em>CHD1<\/em> suggest a dominant negative mechanism of disease. We are excited about these findings, as they will aid in interpretation of sequencing results of undiagnosed patients as well as potentiate understanding of the contribution of epigenetics to human disease. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2017\/09\/02\/jmedgenet-2017-104759\">http:\/\/jmg.bmj.com\/content\/early\/2017\/09\/02\/jmedgenet-2017-104759<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/02\/1.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1105\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/02\/1-300x139.jpg\" alt=\"\" width=\"300\" height=\"139\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/02\/1-300x139.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2018\/02\/1.jpg 648w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p><strong>Missense variants identified in CHD1 are associated with a distinct neurological syndrome.<\/strong><\/p>\n<p>(A) We have identified five unrelated subjects with missense variants at highly conserved locations within the coding region of the <em>CHD1<\/em> gene. R = Arginine, K = Lysine, D = Aspartic Acid, G = Glycine, Q = Glutamine. (B) Locations of the <em>de novo<\/em> missense sites on the chromodomain-ATPase motor, shown on 3-dimensional Chd1 protein structure. Colors represent protein domains and correspond to those in (A). Note that the Arg618Gln variant occurs at the interface between DNA and ATP, supporting the hypothesis that these changes have functional consequences.<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>CHD1 is a chromatin remodeler which plays a role in ensuring chromatin accessibility across the genome in stem cells. Here we report that novel missense variants in CHD1 are associated with a neurodevelopmental phenotype that includes autism, speech apraxia and hypotonia. CHD1 has not previously been associated with such a phenotype and, interestingly, the location [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2018\/02\/26\/missense-variants-in-the-chromatin-remodeler-chd1-are-associated-with-neurodevelopmental-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-1104","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>Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability (Contributed by Genay Pilarowski) - 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\/2018\/02\/26\/missense-variants-in-the-chromatin-remodeler-chd1-are-associated-with-neurodevelopmental-disability\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability (Contributed by Genay Pilarowski) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"CHD1 is a chromatin remodeler which plays a role in ensuring chromatin accessibility across the genome in stem cells. Here we report that novel missense variants in CHD1 are associated with a neurodevelopmental phenotype that includes autism, speech apraxia and hypotonia. CHD1 has not previously been associated with such a phenotype and, interestingly, the location [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2018\/02\/26\/missense-variants-in-the-chromatin-remodeler-chd1-are-associated-with-neurodevelopmental-disability\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2018-02-26T19:23:59+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T15:58:30+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/02\/1.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"648\" \/>\n\t<meta property=\"og:image:height\" content=\"300\" \/>\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=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/02\\\/26\\\/missense-variants-in-the-chromatin-remodeler-chd1-are-associated-with-neurodevelopmental-disability\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/02\\\/26\\\/missense-variants-in-the-chromatin-remodeler-chd1-are-associated-with-neurodevelopmental-disability\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability (Contributed by Genay Pilarowski)\",\"datePublished\":\"2018-02-26T19:23:59+00:00\",\"dateModified\":\"2026-02-24T15:58:30+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/02\\\/26\\\/missense-variants-in-the-chromatin-remodeler-chd1-are-associated-with-neurodevelopmental-disability\\\/\"},\"wordCount\":222,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/02\\\/26\\\/missense-variants-in-the-chromatin-remodeler-chd1-are-associated-with-neurodevelopmental-disability\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2018\\\/02\\\/1-300x139.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/02\\\/26\\\/missense-variants-in-the-chromatin-remodeler-chd1-are-associated-with-neurodevelopmental-disability\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/02\\\/26\\\/missense-variants-in-the-chromatin-remodeler-chd1-are-associated-with-neurodevelopmental-disability\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/02\\\/26\\\/missense-variants-in-the-chromatin-remodeler-chd1-are-associated-with-neurodevelopmental-disability\\\/\",\"name\":\"Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability (Contributed by Genay Pilarowski) - 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His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability (Contributed by Genay Pilarowski) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2018\/02\/26\/missense-variants-in-the-chromatin-remodeler-chd1-are-associated-with-neurodevelopmental-disability\/","og_locale":"en_US","og_type":"article","og_title":"Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability (Contributed by Genay Pilarowski) - JMG Contact blog","og_description":"CHD1 is a chromatin remodeler which plays a role in ensuring chromatin accessibility across the genome in stem cells. 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