{"id":813,"date":"2015-10-16T18:06:30","date_gmt":"2015-10-16T18:06:30","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=813"},"modified":"2026-02-25T00:37:10","modified_gmt":"2026-02-25T00:37:10","slug":"high-sensitivity-sequencing-reveals-multi-organ-somatic-mosaicism-causing-dicer1-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2015\/10\/16\/high-sensitivity-sequencing-reveals-multi-organ-somatic-mosaicism-causing-dicer1-syndrome\/","title":{"rendered":"High sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome (Contributed by Dr. Leanne de Kock)"},"content":{"rendered":"<p>Somatic mosaicism arises following the occurrence of a mutation at some stage during the development of an embryo which is then propagated to only a select population of its cells. This phenomenon is being increasingly recognized as an important cause of isolated presentations of syndromes that are usually hereditary. The DICER1 syndrome is a rare pediatric tumor predisposition syndrome typically caused by inherited (germ-line) mutations in the <em>DICER1<\/em> gene. We studied four children with multiple tumors known to be associated with the syndrome, but in whom germ-line<em>\u00a0DICER1<\/em>\u00a0mutations were not detected by conventional mutation-detection techniques. We observed the same <em>DICER1<\/em> mutation within a particular gene domain in multiple tumors from different anatomic sites in each patient. Using three sensitive targeted-capture technologies, including the novel HaloPlex<sup>HS\u00a0<\/sup>(Agilent Technologies), we confirmed that the identified mutations are mosaic in origin in three of the four children. Our research confirms that mosaic<em>\u00a0DICER1\u00a0<\/em>mutations are an important cause of DICER1 syndrome in severely affected patients. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2015\/10\/16\/jmedgenet-2015-103428\">http:\/\/jmg.bmj.com\/content\/early\/2015\/10\/16\/jmedgenet-2015-103428<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/10\/Figure-1.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-814\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/10\/Figure-1-300x284.jpg\" alt=\"Figure 1\" width=\"300\" height=\"284\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/10\/Figure-1-300x284.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2015\/10\/Figure-1-1024x969.jpg 1024w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Somatic mosaicism arises following the occurrence of a mutation at some stage during the development of an embryo which is then propagated to only a select population of its cells. This phenomenon is being increasingly recognized as an important cause of isolated presentations of syndromes that are usually hereditary. The DICER1 syndrome is a rare [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2015\/10\/16\/high-sensitivity-sequencing-reveals-multi-organ-somatic-mosaicism-causing-dicer1-syndrome\/\">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-813","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>High sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome (Contributed by Dr. Leanne de Kock) - 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\/2015\/10\/16\/high-sensitivity-sequencing-reveals-multi-organ-somatic-mosaicism-causing-dicer1-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"High sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome (Contributed by Dr. Leanne de Kock) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Somatic mosaicism arises following the occurrence of a mutation at some stage during the development of an embryo which is then propagated to only a select population of its cells. This phenomenon is being increasingly recognized as an important cause of isolated presentations of syndromes that are usually hereditary. The DICER1 syndrome is a rare [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2015\/10\/16\/high-sensitivity-sequencing-reveals-multi-organ-somatic-mosaicism-causing-dicer1-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2015-10-16T18:06:30+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T00:37:10+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/10\/Figure-1.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"3515\" \/>\n\t<meta property=\"og:image:height\" content=\"3326\" \/>\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\\\/2015\\\/10\\\/16\\\/high-sensitivity-sequencing-reveals-multi-organ-somatic-mosaicism-causing-dicer1-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/10\\\/16\\\/high-sensitivity-sequencing-reveals-multi-organ-somatic-mosaicism-causing-dicer1-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"High sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome (Contributed by Dr. Leanne de Kock)\",\"datePublished\":\"2015-10-16T18:06:30+00:00\",\"dateModified\":\"2026-02-25T00:37:10+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/10\\\/16\\\/high-sensitivity-sequencing-reveals-multi-organ-somatic-mosaicism-causing-dicer1-syndrome\\\/\"},\"wordCount\":186,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/10\\\/16\\\/high-sensitivity-sequencing-reveals-multi-organ-somatic-mosaicism-causing-dicer1-syndrome\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2015\\\/10\\\/Figure-1-300x284.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/10\\\/16\\\/high-sensitivity-sequencing-reveals-multi-organ-somatic-mosaicism-causing-dicer1-syndrome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/10\\\/16\\\/high-sensitivity-sequencing-reveals-multi-organ-somatic-mosaicism-causing-dicer1-syndrome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/10\\\/16\\\/high-sensitivity-sequencing-reveals-multi-organ-somatic-mosaicism-causing-dicer1-syndrome\\\/\",\"name\":\"High sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome (Contributed by Dr. Leanne de Kock) - 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