{"id":2017,"date":"2024-10-29T15:23:57","date_gmt":"2024-10-29T15:23:57","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2017"},"modified":"2026-02-22T01:28:08","modified_gmt":"2026-02-22T01:28:08","slug":"wdr45-variants-as-a-major-cause-for-a-clinically-variable-intellectual-disability-syndrome-from-early-infancy-in-females","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2024\/10\/29\/wdr45-variants-as-a-major-cause-for-a-clinically-variable-intellectual-disability-syndrome-from-early-infancy-in-females\/","title":{"rendered":"WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females (Contributed by Dr. Chihiro Abe-Hatano)"},"content":{"rendered":"<p>Our genetic scan of <em>WDR45<\/em> gene on 32 girls with intellectual disabilities (ID) found two having disease-causing <em>WDR45<\/em> variants. Together with our previous findings from 19 girls subjected to whole genome sequencing, <em>WDR45 <\/em>variants accounts for 12% of female ID patients, apparently suggesting its major role in female ID patients. We also performed an extensive X chromosome inactivation study on one individual with a novel variant showing extremely severe phenotype to delineate potential genetic consequence for the phenotypic spectrum of the <em>WDR45<\/em> variants. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2024\/10\/28\/jmg-2024-110068\">https:\/\/jmg.bmj.com\/content\/early\/2024\/10\/28\/jmg-2024-110068<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/10\/29\/wdr45-variants-as-a-major-cause-for-a-clinically-variable-intellectual-disability-syndrome-from-early-infancy-in-females\/ncnplogo\/\" rel=\"attachment wp-att-2018\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-full wp-image-2018\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2024\/10\/NCNPlogo.jpg\" alt=\"\" width=\"71\" height=\"81\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Our genetic scan of WDR45 gene on 32 girls with intellectual disabilities (ID) found two having disease-causing WDR45 variants. Together with our previous findings from 19 girls subjected to whole genome sequencing, WDR45 variants accounts for 12% of female ID patients, apparently suggesting its major role in female ID patients. We also performed an extensive [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2024\/10\/29\/wdr45-variants-as-a-major-cause-for-a-clinically-variable-intellectual-disability-syndrome-from-early-infancy-in-females\/\">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-2017","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>WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females (Contributed by Dr. Chihiro Abe-Hatano) - 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\/2024\/10\/29\/wdr45-variants-as-a-major-cause-for-a-clinically-variable-intellectual-disability-syndrome-from-early-infancy-in-females\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females (Contributed by Dr. Chihiro Abe-Hatano) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Our genetic scan of WDR45 gene on 32 girls with intellectual disabilities (ID) found two having disease-causing WDR45 variants. Together with our previous findings from 19 girls subjected to whole genome sequencing, WDR45 variants accounts for 12% of female ID patients, apparently suggesting its major role in female ID patients. We also performed an extensive [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2024\/10\/29\/wdr45-variants-as-a-major-cause-for-a-clinically-variable-intellectual-disability-syndrome-from-early-infancy-in-females\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2024-10-29T15:23:57+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T01:28:08+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2024\/10\/NCNPlogo.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"71\" \/>\n\t<meta property=\"og:image:height\" content=\"81\" \/>\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\\\/2024\\\/10\\\/29\\\/wdr45-variants-as-a-major-cause-for-a-clinically-variable-intellectual-disability-syndrome-from-early-infancy-in-females\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/10\\\/29\\\/wdr45-variants-as-a-major-cause-for-a-clinically-variable-intellectual-disability-syndrome-from-early-infancy-in-females\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females (Contributed by Dr. Chihiro Abe-Hatano)\",\"datePublished\":\"2024-10-29T15:23:57+00:00\",\"dateModified\":\"2026-02-22T01:28:08+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/10\\\/29\\\/wdr45-variants-as-a-major-cause-for-a-clinically-variable-intellectual-disability-syndrome-from-early-infancy-in-females\\\/\"},\"wordCount\":111,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/10\\\/29\\\/wdr45-variants-as-a-major-cause-for-a-clinically-variable-intellectual-disability-syndrome-from-early-infancy-in-females\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2024\\\/10\\\/NCNPlogo.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/10\\\/29\\\/wdr45-variants-as-a-major-cause-for-a-clinically-variable-intellectual-disability-syndrome-from-early-infancy-in-females\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/10\\\/29\\\/wdr45-variants-as-a-major-cause-for-a-clinically-variable-intellectual-disability-syndrome-from-early-infancy-in-females\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2024\\\/10\\\/29\\\/wdr45-variants-as-a-major-cause-for-a-clinically-variable-intellectual-disability-syndrome-from-early-infancy-in-females\\\/\",\"name\":\"WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females (Contributed by Dr. Chihiro Abe-Hatano) - 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