{"id":5859,"date":"2019-09-18T11:26:38","date_gmt":"2019-09-18T15:26:38","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?page_id=5859"},"modified":"2019-09-18T11:26:47","modified_gmt":"2019-09-18T15:26:47","slug":"a-swi-snf-related-autism-syndrome-caused-by-de-novo-mutations-in-adnp","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/adnp-old\/a-swi-snf-related-autism-syndrome-caused-by-de-novo-mutations-in-adnp\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>A SWI\/SNF-related autism syndrome caused by de novo mutations in <em>ADNP<\/em><\/strong><\/h2>\n<p>Original research article by Helsmoortel C., <em>et al.<\/em> (2014).<\/p>\n<p>Read the abstract <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/24531329\">here<\/a>.<\/p>\n<p>A person\u2019s DNA is continually remodeled and repackaged throughout life. Many genes are involved at different steps in the process.\u00a0<em>ADNP<\/em>\u00a0is one of those genes. It works with a group of proteins called\u00a0SWI\/SNF. Genes involved in\u00a0the remodeling and repackaging process, called chromatin remodeling, are an area of increasing interest for autism researchers. The authors estimate that a damaging gene change in\u00a0<em>ADNP<\/em>\u00a0occurs in at least 0.17% of autism cases. This makes it one of the more common genes that were known to be associated with autism at the time the article was published, in April 2014. Participating in the study were 5,776 people with intellectual disability. A test called whole-exome sequencing was used to screen for a genetic cause of their intellectual disability.\u00a0In\u00a0this large group, 10 people were found to have changes in\u00a0<em>ADNP<\/em>,\u00a0one of whom had been identified through the <a href=\"https:\/\/www.sfari.org\/resource\/simons-simplex-collection\/\">Simons Simplex Collection<\/a><em>.<\/em><\/p>\n<p>These 10 people are described in this study. All 10 have a diagnosis of autism. They all have some degree of intellectual disability, ranging from mild to severe. Three have congenital heart defects, two have seizures, and at least\u00a0six children have vision problems (they are far-sighted). Several of them have brain differences that were identified by an MRI test, behavior issues (some with ADHD), concerns with extremely flexible joints (called hyperlaxity), recurrent infections, feeding problems, and\/or shorter-than-average height. Two people also had insensitivity to pain and GI issues like constipation.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>A SWI\/SNF-related autism syndrome caused by de novo mutations in ADNP Original research article by Helsmoortel C., et al. (2014). Read the abstract here. A person\u2019s DNA is continually remodeled and repackaged throughout life. Many genes are involved at different steps in the process.\u00a0ADNP\u00a0is one of those genes. It works with a group of proteins [&hellip;]<\/p>\n","protected":false},"author":6,"featured_media":0,"parent":398,"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\/5859"}],"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=5859"}],"version-history":[{"count":2,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/5859\/revisions"}],"predecessor-version":[{"id":5861,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/5859\/revisions\/5861"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/398"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=5859"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}