{"id":701,"date":"2014-11-13T19:47:24","date_gmt":"2014-11-13T19:47:24","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=701"},"modified":"2014-11-13T19:47:24","modified_gmt":"2014-11-13T19:47:24","slug":"exhaustive-methylation-analysis-revealed-uneven-profiles-of-methylation-at-igf2icr1h19-11p15-loci-in-russell-silver-syndrome","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2014\/11\/13\/exhaustive-methylation-analysis-revealed-uneven-profiles-of-methylation-at-igf2icr1h19-11p15-loci-in-russell-silver-syndrome\/","title":{"rendered":"Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2\/ICR1\/H19 11p15 loci in Russell Silver syndrome"},"content":{"rendered":"<p>The imprinted 11p15 <em>IGF2\/<\/em>ICR1<em>\/<\/em><em>H19<\/em> domain contains ten differentially methylated loci all methylated on the paternal allele. Hypomethylation at this domain causes Russell Silver Syndrome (RSS), a condition associating severe growth retardation, metabolic disturbances and characteristic dysmorphism. We have exhaustively documented the methylation pattern across the entire <em>IGF2\/<\/em>ICR1<em>\/<\/em><em>H19<\/em> domain in a large cohort of RSS patients carrying 11p15 ICR1 hypomethylation (n =104). For these patients, we found uneven levels of methylation across the domain allowing to distinguish two groups of loci unevenly hypomethylated. Interestingly, 9% of the RSS patients showed normal methylation at some loci of the 11p15 <em>IGF2\/<\/em>ICR1<em>\/<\/em><em>H19<\/em>. Our results constitute an important step toward understanding the mechanisms of regulation of the imprinted <em>IGF2\/<\/em>ICR1<em>\/<\/em><em>H19<\/em> domain. These finding are of major diagnostic consequences to design a reliable molecular test for RSS. (By Dr. Salah Azzi, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2014\/11\/13\/jmedgenet-2014-102732\">http:\/\/jmg.bmj.com\/content\/early\/2014\/11\/13\/jmedgenet-2014-102732<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>The imprinted 11p15 IGF2\/ICR1\/H19 domain contains ten differentially methylated loci all methylated on the paternal allele. Hypomethylation at this domain causes Russell Silver Syndrome (RSS), a condition associating severe growth retardation, metabolic disturbances and characteristic dysmorphism. We have exhaustively documented the methylation pattern across the entire IGF2\/ICR1\/H19 domain in a large cohort of RSS patients [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2014\/11\/13\/exhaustive-methylation-analysis-revealed-uneven-profiles-of-methylation-at-igf2icr1h19-11p15-loci-in-russell-silver-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-701","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\/701","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=701"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/701\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=701"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=701"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=701"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}