{"id":904,"date":"2016-06-29T19:14:00","date_gmt":"2016-06-29T19:14:00","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=904"},"modified":"2026-02-24T21:26:34","modified_gmt":"2026-02-24T21:26:34","slug":"de-novo-mutations-of-kiaa2022-in-females-cause-intellectual-disability-and-intractable-epilepsy","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2016\/06\/29\/de-novo-mutations-of-kiaa2022-in-females-cause-intellectual-disability-and-intractable-epilepsy\/","title":{"rendered":"De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy (Contributed by Iris de Lange)"},"content":{"rendered":"<p>Pathogenic variants in the X-linked KIAA2022 gene are known to cause severe intellectual disability in males. Until now, all reported related female carriers of these KIAA2022 disruptions were unaffected and only 3 affected female patients have been described so far. We now report 14 female patients with heterozygous de novo loss of function mutations of KIAA2022. Twelve patients had epilepsy and 13 had mild to severe intellectual disability. This article provides an extensive clinical description of the affected females, providing clinicians with useful information for genetic counseling. Our data strongly suggest that pathogenic KIAA2022 variants can lead to a phenotype not only in males, but also in females. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/06\/29\/jmedgenet-2016-103909\">http:\/\/jmg.bmj.com\/content\/early\/2016\/06\/29\/jmedgenet-2016-103909<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/06\/Figure-1.-Genomic-organization-of-KIAA2022-and-location-of-mutations.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-905\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/06\/Figure-1.-Genomic-organization-of-KIAA2022-and-location-of-mutations-300x225.jpg\" alt=\"Figure 1. Genomic organization of KIAA2022 and location of mutations\" width=\"300\" height=\"225\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/06\/Figure-1.-Genomic-organization-of-KIAA2022-and-location-of-mutations-300x225.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2016\/06\/Figure-1.-Genomic-organization-of-KIAA2022-and-location-of-mutations-768x576.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2016\/06\/Figure-1.-Genomic-organization-of-KIAA2022-and-location-of-mutations.jpg 960w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Pathogenic variants in the X-linked KIAA2022 gene are known to cause severe intellectual disability in males. Until now, all reported related female carriers of these KIAA2022 disruptions were unaffected and only 3 affected female patients have been described so far. We now report 14 female patients with heterozygous de novo loss of function mutations of [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2016\/06\/29\/de-novo-mutations-of-kiaa2022-in-females-cause-intellectual-disability-and-intractable-epilepsy\/\">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-904","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy (Contributed by Iris de Lange) - 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\/2016\/06\/29\/de-novo-mutations-of-kiaa2022-in-females-cause-intellectual-disability-and-intractable-epilepsy\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy (Contributed by Iris de Lange) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Pathogenic variants in the X-linked KIAA2022 gene are known to cause severe intellectual disability in males. Until now, all reported related female carriers of these KIAA2022 disruptions were unaffected and only 3 affected female patients have been described so far. We now report 14 female patients with heterozygous de novo loss of function mutations of [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2016\/06\/29\/de-novo-mutations-of-kiaa2022-in-females-cause-intellectual-disability-and-intractable-epilepsy\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2016-06-29T19:14:00+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T21:26:34+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2016\/06\/Figure-1.-Genomic-organization-of-KIAA2022-and-location-of-mutations.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"960\" \/>\n\t<meta property=\"og:image:height\" content=\"720\" \/>\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\\\/2016\\\/06\\\/29\\\/de-novo-mutations-of-kiaa2022-in-females-cause-intellectual-disability-and-intractable-epilepsy\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/06\\\/29\\\/de-novo-mutations-of-kiaa2022-in-females-cause-intellectual-disability-and-intractable-epilepsy\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy (Contributed by Iris de Lange)\",\"datePublished\":\"2016-06-29T19:14:00+00:00\",\"dateModified\":\"2026-02-24T21:26:34+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/06\\\/29\\\/de-novo-mutations-of-kiaa2022-in-females-cause-intellectual-disability-and-intractable-epilepsy\\\/\"},\"wordCount\":131,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/06\\\/29\\\/de-novo-mutations-of-kiaa2022-in-females-cause-intellectual-disability-and-intractable-epilepsy\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2016\\\/06\\\/Figure-1.-Genomic-organization-of-KIAA2022-and-location-of-mutations-300x225.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/06\\\/29\\\/de-novo-mutations-of-kiaa2022-in-females-cause-intellectual-disability-and-intractable-epilepsy\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/06\\\/29\\\/de-novo-mutations-of-kiaa2022-in-females-cause-intellectual-disability-and-intractable-epilepsy\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/06\\\/29\\\/de-novo-mutations-of-kiaa2022-in-females-cause-intellectual-disability-and-intractable-epilepsy\\\/\",\"name\":\"De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy (Contributed by Iris de Lange) - 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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":"De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy (Contributed by Iris de Lange) - 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\/2016\/06\/29\/de-novo-mutations-of-kiaa2022-in-females-cause-intellectual-disability-and-intractable-epilepsy\/","og_locale":"en_US","og_type":"article","og_title":"De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy (Contributed by Iris de Lange) - JMG Contact blog","og_description":"Pathogenic variants in the X-linked KIAA2022 gene are known to cause severe intellectual disability in males. 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