{"id":813,"date":"2015-10-16T18:06:30","date_gmt":"2015-10-16T18:06:30","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=813"},"modified":"2015-10-16T18:06:30","modified_gmt":"2015-10-16T18:06:30","slug":"high-sensitivity-sequencing-reveals-multi-organ-somatic-mosaicism-causing-dicer1-syndrome","status":"publish","type":"post","link":"https:\/\/stg-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"},"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. (By Dr. Leanne de Kock, <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:\/\/stg-blogs.bmj.com\/jmg\/files\/2015\/10\/Figure-1.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-814\" src=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2015\/10\/Figure-1-300x284.jpg\" alt=\"Figure 1\" width=\"300\" height=\"284\" srcset=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2015\/10\/Figure-1-300x284.jpg 300w, https:\/\/stg-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:\/\/stg-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":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-813","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/813","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=813"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/813\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=813"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=813"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=813"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}