{"id":807,"date":"2015-09-30T18:52:16","date_gmt":"2015-09-30T18:52:16","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=807"},"modified":"2015-09-30T18:52:16","modified_gmt":"2015-09-30T18:52:16","slug":"zollino-et-al-kansl1-haploinsufficiency-syndrome","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2015\/09\/30\/zollino-et-al-kansl1-haploinsufficiency-syndrome\/","title":{"rendered":"Zollino et al KANSL1 haploinsufficiency syndrome"},"content":{"rendered":"<p>Among rare diseases, the <em>KANSL1 <\/em>haploinsufficiency syndrome is one of the most common conditions. It can be caused by a small deletion on chromosome 17, removing the <em>KANSL1 <\/em>gene and other genes, or by a mutation in <em>KANSL1.<\/em> By analysing a large cohort of patients, we found that the degree of cognitive impairment is very mild in most. More importantly, although chromosome deletions are more frequent than <em>KANSL1<\/em> mutations, we observed that <em>KANSL1 <\/em>is the major gene for this condition. It palys a role in regulating the activity of many genes, by a DNA process defined as \u201chistone acetylation\u201d. Drugs with acetylating activity might eventually be used in targeted therapy of this condition. (By Prof. Marcella Zollino, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2015\/09\/30\/jmedgenet-2015-103184\">http:\/\/jmg.bmj.com\/content\/early\/2015\/09\/30\/jmedgenet-2015-103184<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Among rare diseases, the KANSL1 haploinsufficiency syndrome is one of the most common conditions. It can be caused by a small deletion on chromosome 17, removing the KANSL1 gene and other genes, or by a mutation in KANSL1. By analysing a large cohort of patients, we found that the degree of cognitive impairment is very [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2015\/09\/30\/zollino-et-al-kansl1-haploinsufficiency-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-807","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\/807","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=807"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/807\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=807"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=807"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=807"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}