{"id":6376,"date":"2019-10-04T10:34:19","date_gmt":"2019-10-04T14:34:19","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?page_id=6376"},"modified":"2019-10-04T10:34:19","modified_gmt":"2019-10-04T14:34:19","slug":"6376-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/ppp2r5d\/6376-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>B56\u03b4-related protein phosphatase 2A dysfunction identified in patients with intellectual disability<\/strong><\/h2>\n<p>Original research article by G. Houge <em>et al. <\/em>(2015)<\/p>\n<p>Read the abstract <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/26168268\">here<\/a>.<\/p>\n<p>This article examines how changes in the\u00a0<em>PPP2R5D\u00a0<\/em>gene can cause features of intellectual disability. The study team identified 16 people who have a problem with the creation and processing of the PP2A protein, which is made by the\u00a0PPP2R5D<em>\u00a0<\/em>gene. From this group of 16 identified people, 11 were found to have changes in the PPP2R5D<em>\u00a0<\/em>gene and 5 had a change in a related gene,\u00a0PPP2R1A<em>.<\/em><\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone  wp-image-6377\" src=\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2019\/10\/04063301\/ppp2r5d_2-300x297.png\" alt=\"\" width=\"859\" height=\"850\" srcset=\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2019\/10\/04063301\/ppp2r5d_2-300x297.png 300w, https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2019\/10\/04063301\/ppp2r5d_2.png 386w\" sizes=\"(max-width: 859px) 100vw, 859px\" \/><\/p>\n<p>Of the eleven\u00a0PPP2R5D\u00a0cases that were identified, it was found that the type or location of the change in the\u00a0PPP2R5D\u00a0gene was related to the severity of intellectual disability (ID). Eight of 11 people found to have\u00a0<em>PPP2R5D<\/em>\u00a0genetic changes had either the E198K change or the E200K change (E198K and E200K denote the location and protein changes caused by the change). People with the E198K change experienced more severe intellectual disability. However, people with the E200K change were found to have mild intellectual disability.<\/p>\n<p>The following table represents the common clinical features of people found to have genetic changes in\u00a0PPP2R5D:<\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone  wp-image-6378\" src=\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2019\/10\/04063410\/ppp2r5d_3-300x228.png\" alt=\"\" width=\"1028\" height=\"781\" srcset=\"https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2019\/10\/04063410\/ppp2r5d_3-300x228.png 300w, https:\/\/cdn.simonssearchlight.org\/wp-content\/uploads\/2019\/10\/04063410\/ppp2r5d_3.png 792w\" sizes=\"(max-width: 1028px) 100vw, 1028px\" \/><\/p>\n","protected":false},"excerpt":{"rendered":"<p>B56\u03b4-related protein phosphatase 2A dysfunction identified in patients with intellectual disability Original research article by G. Houge et al. (2015) Read the abstract here. This article examines how changes in the\u00a0PPP2R5D\u00a0gene can cause features of intellectual disability. The study team identified 16 people who have a problem with the creation and processing of the PP2A [&hellip;]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":543,"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\/6376"}],"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=6376"}],"version-history":[{"count":2,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6376\/revisions"}],"predecessor-version":[{"id":6380,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6376\/revisions\/6380"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/543"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=6376"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}