{"id":6464,"date":"2019-10-14T11:40:48","date_gmt":"2019-10-14T15:40:48","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?page_id=6464"},"modified":"2020-04-20T16:58:40","modified_gmt":"2020-04-20T20:58:40","slug":"6464-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/syngap1-old\/6464-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>A de novo paradigm for mental retardation.<\/strong><\/h2>\n<p>(please note: &#8220;mental retardation&#8221; is out-of-date terminology; we now use the term &#8220;intellectual disability&#8221;)<\/p>\n<p>Original research article by L.E. Vissers\u00a0<em>et al<\/em>. (2010).<\/p>\n<p>Read the abstract <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/21076407\">here<\/a>.<\/p>\n<p>SYNGAP1 gene mutations are associated with intellectual disability (ID).\u00a0 This report describes a how a SYNGAP1 mutation was identified in a patient through whole exome sequencing. This finding was not observed in either parent (this is called \u201c<em>de novo\u201d<\/em>) and is likely causative of the patient\u2019s intellectual disability.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>A de novo paradigm for mental retardation. (please note: &#8220;mental retardation&#8221; is out-of-date terminology; we now use the term &#8220;intellectual disability&#8221;) Original research article by L.E. Vissers\u00a0et al. (2010). Read the abstract here. SYNGAP1 gene mutations are associated with intellectual disability (ID).\u00a0 This report describes a how a SYNGAP1 mutation was identified in a patient [&hellip;]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":588,"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\/6464"}],"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\/13"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/comments?post=6464"}],"version-history":[{"count":3,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6464\/revisions"}],"predecessor-version":[{"id":7729,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6464\/revisions\/7729"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/588"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=6464"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}