{"id":429,"date":"2012-12-15T06:03:42","date_gmt":"2012-12-15T06:03:42","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=429"},"modified":"2013-02-27T13:48:33","modified_gmt":"2013-02-27T13:48:33","slug":"paternal-deletion-of-the-kcnq1ot1-icr-results-in-defective-imprinting-and-recurrent-severe-intra-uterine-growth-restriction","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2012\/12\/15\/paternal-deletion-of-the-kcnq1ot1-icr-results-in-defective-imprinting-and-recurrent-severe-intra-uterine-growth-restriction\/","title":{"rendered":"Paternal deletion of the KCNQ1OT1 ICR results in defective imprinting and recurrent severe Intra-Uterine Growth Restriction"},"content":{"rendered":"<p>Intra-Uterine Growth Restriction (IUGR)\u00a0is commonly associated with perinatal morbidity and mortality. Causes are heterogeneous and can be genetic or environmental. The study by De Crescenzo et al. describes a case in which two fetuses conceived by the same couple\u00a0died\u00a0in utero with severe growth restriction. The underlying \u00a0genetic defect consisted of a 60 kb deletion which removes the control region of an imprinted gene cluster at chromosome 11p15.5. This resulted in activation of genes with growth-inhibitory functions, such as\u00a0<i>CDKN1C<\/i>\u00a0and <i>PHLDA2<\/i>. \u00a0This case highlights the complexity of phenotypes associated with\u00a0the\u00a011p15.5 imprinted genes, which includes Silver-Russell and Beckwith-Wiedemann syndromes. (By Dr. Andrea Riccio, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2012\/12\/13\/jmedgenet-2012-101352\">http:\/\/jmg.bmj.com\/content\/early\/2012\/12\/13\/jmedgenet-2012-101352<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Intra-Uterine Growth Restriction (IUGR)\u00a0is commonly associated with perinatal morbidity and mortality. Causes are heterogeneous and can be genetic or environmental. The study by De Crescenzo et al. describes a case in which two fetuses conceived by the same couple\u00a0died\u00a0in utero with severe growth restriction. The underlying \u00a0genetic defect consisted of a 60 kb deletion which [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2012\/12\/15\/paternal-deletion-of-the-kcnq1ot1-icr-results-in-defective-imprinting-and-recurrent-severe-intra-uterine-growth-restriction\/\">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-429","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\/429","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=429"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/429\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=429"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=429"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=429"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}