{"id":5933,"date":"2019-09-18T15:03:13","date_gmt":"2019-09-18T19:03:13","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?page_id=5933"},"modified":"2019-09-18T15:03:50","modified_gmt":"2019-09-18T19:03:50","slug":"de-novo-truncating-mutations-in-asxl3","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/asxl3-2\/de-novo-truncating-mutations-in-asxl3\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>De novo truncating mutations in <em>ASXL3<\/em> are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome<\/strong><\/h2>\n<p>Original research article by M.N. Bainbridge <em>et al.<\/em> (2013).<\/p>\n<p>Read the article <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3707024\/\">here<\/a>.<\/p>\n<p>This article compares four children with\u00a0<em>ASXL3<\/em>\u00a0gene changes with children with Bohring-Opitz syndrome. Bohring-Opitz syndrome is typically caused by changes in a different gene, ASXL1. Researchers now believe that the two genes may have similar roles in growth and development.<\/p>\n<p>The two genetic conditions have many features in common, including small size throughout pregnancy (IUGR) and small size at birth, feeding difficulties in infancy, slow growth, differences in finger position (may appear to be bent outward, rather than straight), developmental delay with missed milestones, and intellectual disability. One child with an\u00a0<em>ASXL3<\/em>\u00a0change died at 9 months of age. The gene changes in all four children with <em>ASXL3<\/em> changes were de novo, meaning that the changes were not present in either parent and were brand new in the child.<\/p>\n<p>Several features specific to Bohring-Opitz syndrome were\u00a0not\u00a0seen in the children with\u00a0<em>ASXL3<\/em>\u00a0changes. These are elbow and wrist flexion problems, vision problems, and early fusion of bones in the skull that cause the head to be shaped differently. None of the four children in the study had these features.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome Original research article by M.N. Bainbridge et al. (2013). Read the article here. This article compares four children with\u00a0ASXL3\u00a0gene changes with children with Bohring-Opitz syndrome. Bohring-Opitz syndrome is typically caused by changes in a different gene, ASXL1. [&hellip;]<\/p>\n","protected":false},"author":6,"featured_media":0,"parent":414,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/5933"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/comments?post=5933"}],"version-history":[{"count":2,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/5933\/revisions"}],"predecessor-version":[{"id":5935,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/5933\/revisions\/5935"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/414"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=5933"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}