{"id":1752,"date":"2022-07-30T13:48:28","date_gmt":"2022-07-30T13:48:28","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1752"},"modified":"2026-02-23T00:46:24","modified_gmt":"2026-02-23T00:46:24","slug":"cdkn1c-hyperexpression-in-two-patients-with-severe-growth-failure-and-microdeletions-affecting-the-paternally-inherited-kcnq1ot1tss-dmr","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2022\/07\/30\/cdkn1c-hyperexpression-in-two-patients-with-severe-growth-failure-and-microdeletions-affecting-the-paternally-inherited-kcnq1ot1tss-dmr\/","title":{"rendered":"CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR (Contributed by Dr. Masayo Kagami \u93e1 \u96c5\u4ee3)"},"content":{"rendered":"<p><em>CDKN1C <\/em>is a negative regulator for cell proliferation. <em>KCNQ1OT1<\/em>:TSS-differentially methylated region (DMR) resides on chromosome 11p15.5 and regulates <em>CDKN1C <\/em>expression via <em>KCNQ1OT1<\/em> expression<em>.<\/em> Paternal deletions involving the <em>KCNQ1OT1<\/em>:TSS-DMR result in variable phenotypes. However, expression analyses for <em>CDKN1C<\/em> in these patients are very limited. We identified two patients with prenatal and postnatal growth failure and clinical suspicion for Silver-Russell syndrome (SRS), having paternal microdeletions involving the <em>KCNQ1OT1<\/em>:TSS-DMR on 11p15.5, and demonstrated <em>CDKN1C <\/em>activation in both patients. Deletions involving the <em>KCNQ1OT1<\/em>:TSS-DMR, but not including <em>CDKN1C<\/em> enhancers, disrupt <em>KCNQ1OT1<\/em> expression, strongly activate<em> CDKN1C<\/em> expression, and consequently caused severe growth failure in our patients. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2022\/07\/29\/jmg-2022-108700\">https:\/\/jmg.bmj.com\/content\/early\/2022\/07\/29\/jmg-2022-108700<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/07\/30\/cdkn1c-hyperexpression-in-two-patients-with-severe-growth-failure-and-microdeletions-affecting-the-paternally-inherited-kcnq1ot1tss-dmr\/img_2973\/\" rel=\"attachment wp-att-1753\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1753\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/07\/IMG_2973-300x225.jpg\" alt=\"\" width=\"300\" height=\"225\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/07\/IMG_2973-300x225.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/07\/IMG_2973-1024x768.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/07\/IMG_2973-768x576.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/07\/IMG_2973-1536x1152.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/07\/IMG_2973-2048x1536.jpg 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/07\/IMG_2973-640x480.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>CDKN1C is a negative regulator for cell proliferation. KCNQ1OT1:TSS-differentially methylated region (DMR) resides on chromosome 11p15.5 and regulates CDKN1C expression via KCNQ1OT1 expression. Paternal deletions involving the KCNQ1OT1:TSS-DMR result in variable phenotypes. However, expression analyses for CDKN1C in these patients are very limited. We identified two patients with prenatal and postnatal growth failure and clinical [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/07\/30\/cdkn1c-hyperexpression-in-two-patients-with-severe-growth-failure-and-microdeletions-affecting-the-paternally-inherited-kcnq1ot1tss-dmr\/\">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-1752","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>CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR (Contributed by Dr. Masayo Kagami \u93e1 \u96c5\u4ee3) - 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\/07\/30\/cdkn1c-hyperexpression-in-two-patients-with-severe-growth-failure-and-microdeletions-affecting-the-paternally-inherited-kcnq1ot1tss-dmr\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR (Contributed by Dr. Masayo Kagami \u93e1 \u96c5\u4ee3) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"CDKN1C is a negative regulator for cell proliferation. KCNQ1OT1:TSS-differentially methylated region (DMR) resides on chromosome 11p15.5 and regulates CDKN1C expression via KCNQ1OT1 expression. Paternal deletions involving the KCNQ1OT1:TSS-DMR result in variable phenotypes. However, expression analyses for CDKN1C in these patients are very limited. We identified two patients with prenatal and postnatal growth failure and clinical [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2022\/07\/30\/cdkn1c-hyperexpression-in-two-patients-with-severe-growth-failure-and-microdeletions-affecting-the-paternally-inherited-kcnq1ot1tss-dmr\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2022-07-30T13:48:28+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:46:24+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/07\/IMG_2973-scaled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2560\" \/>\n\t<meta property=\"og:image:height\" content=\"1920\" \/>\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\\\/07\\\/30\\\/cdkn1c-hyperexpression-in-two-patients-with-severe-growth-failure-and-microdeletions-affecting-the-paternally-inherited-kcnq1ot1tss-dmr\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/07\\\/30\\\/cdkn1c-hyperexpression-in-two-patients-with-severe-growth-failure-and-microdeletions-affecting-the-paternally-inherited-kcnq1ot1tss-dmr\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR (Contributed by Dr. Masayo Kagami \u93e1 \u96c5\u4ee3)\",\"datePublished\":\"2022-07-30T13:48:28+00:00\",\"dateModified\":\"2026-02-23T00:46:24+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/07\\\/30\\\/cdkn1c-hyperexpression-in-two-patients-with-severe-growth-failure-and-microdeletions-affecting-the-paternally-inherited-kcnq1ot1tss-dmr\\\/\"},\"wordCount\":148,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/07\\\/30\\\/cdkn1c-hyperexpression-in-two-patients-with-severe-growth-failure-and-microdeletions-affecting-the-paternally-inherited-kcnq1ot1tss-dmr\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2022\\\/07\\\/IMG_2973-300x225.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/07\\\/30\\\/cdkn1c-hyperexpression-in-two-patients-with-severe-growth-failure-and-microdeletions-affecting-the-paternally-inherited-kcnq1ot1tss-dmr\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/07\\\/30\\\/cdkn1c-hyperexpression-in-two-patients-with-severe-growth-failure-and-microdeletions-affecting-the-paternally-inherited-kcnq1ot1tss-dmr\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/07\\\/30\\\/cdkn1c-hyperexpression-in-two-patients-with-severe-growth-failure-and-microdeletions-affecting-the-paternally-inherited-kcnq1ot1tss-dmr\\\/\",\"name\":\"CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR (Contributed by Dr. Masayo Kagami \u93e1 \u96c5\u4ee3) - 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KCNQ1OT1:TSS-differentially methylated region (DMR) resides on chromosome 11p15.5 and regulates CDKN1C expression via KCNQ1OT1 expression. Paternal deletions involving the KCNQ1OT1:TSS-DMR result in variable phenotypes. However, expression analyses for CDKN1C in these patients are very limited. We identified two patients with prenatal and postnatal growth failure and clinical [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2022\/07\/30\/cdkn1c-hyperexpression-in-two-patients-with-severe-growth-failure-and-microdeletions-affecting-the-paternally-inherited-kcnq1ot1tss-dmr\/","og_site_name":"JMG Contact blog","article_published_time":"2022-07-30T13:48:28+00:00","article_modified_time":"2026-02-23T00:46:24+00:00","og_image":[{"width":2560,"height":1920,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/07\/IMG_2973-scaled.jpg","type":"image\/jpeg"}],"author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/07\/30\/cdkn1c-hyperexpression-in-two-patients-with-severe-growth-failure-and-microdeletions-affecting-the-paternally-inherited-kcnq1ot1tss-dmr\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/07\/30\/cdkn1c-hyperexpression-in-two-patients-with-severe-growth-failure-and-microdeletions-affecting-the-paternally-inherited-kcnq1ot1tss-dmr\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR (Contributed by Dr. Masayo Kagami \u93e1 \u96c5\u4ee3)","datePublished":"2022-07-30T13:48:28+00:00","dateModified":"2026-02-23T00:46:24+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/07\/30\/cdkn1c-hyperexpression-in-two-patients-with-severe-growth-failure-and-microdeletions-affecting-the-paternally-inherited-kcnq1ot1tss-dmr\/"},"wordCount":148,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/07\/30\/cdkn1c-hyperexpression-in-two-patients-with-severe-growth-failure-and-microdeletions-affecting-the-paternally-inherited-kcnq1ot1tss-dmr\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/07\/IMG_2973-300x225.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2022\/07\/30\/cdkn1c-hyperexpression-in-two-patients-with-severe-growth-failure-and-microdeletions-affecting-the-paternally-inherited-kcnq1ot1tss-dmr\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2022\/07\/30\/cdkn1c-hyperexpression-in-two-patients-with-severe-growth-failure-and-microdeletions-affecting-the-paternally-inherited-kcnq1ot1tss-dmr\/","url":"https:\/\/blogs.bmj.com\/jmg\/2022\/07\/30\/cdkn1c-hyperexpression-in-two-patients-with-severe-growth-failure-and-microdeletions-affecting-the-paternally-inherited-kcnq1ot1tss-dmr\/","name":"CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR (Contributed by Dr. Masayo Kagami \u93e1 \u96c5\u4ee3) - 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