{"id":6048,"date":"2019-09-24T09:01:15","date_gmt":"2019-09-24T13:01:15","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?page_id=6048"},"modified":"2020-05-15T16:44:58","modified_gmt":"2020-05-15T20:44:58","slug":"6048-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/ctbp1\/6048-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>A recurrent de novo\u00a0<em>CTBP1\u00a0<\/em>mutation is associated with developmental delay, hypotonia, ataxia and tooth enamel defects<\/strong><\/h2>\n<p>Original research article by D.B. Beck\u00a0<em>et al.<\/em> (2016).<\/p>\n<p>Read the abstract <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/27094857\">here<\/a>.<\/p>\n<p>The researchers performed whole exome sequencing on people affected with neurodevelopmental disorders, and their parents. They found four people with a change in the\u00a0<em>CTBP1<\/em>\u00a0gene. The\u00a0<em>CTBP1<\/em>\u00a0gene has a critical role in regulating and coordinating development. The four people exhibited similar clinical features, suggesting that <em>CTBP1<\/em>\u00a0may be linked to these features. The four people, who ranged in age from 8 to 20 years old, had developmental delay and intellectual disability, low muscle tone, issues with muscle coordination, difficulty gaining weight, and dental defects. The\u00a0<em>CTBP1<\/em>\u00a0gene is not currently linked to any certain diagnosis.<\/p>\n<table style=\"width: 100%; border: 1px solid black;\">\n<tbody>\n<tr>\n<td style=\"color: white; background-color: #f36046; text-align: center; padding: 5px; border: 1px solid #d9d9d9;\" colspan=\"2\"><strong>Clinical Features Observed in Individuals with <em>CTBP1<\/em> Gene Changes<\/strong><\/td>\n<\/tr>\n<tr>\n<td style=\"color: white; background-color: #f36046; padding: 5px; border: 1px solid #d9d9d9; text-align: center;\"><strong>Neurodevelopmental Features<\/strong><\/td>\n<td style=\"padding: 5px; border: 1px solid #d9d9d9;\">\n<ul>\n<li>Global developmental delay<\/li>\n<li>Intellectual disability<\/li>\n<li>Motor function delay<\/li>\n<\/ul>\n<\/td>\n<\/tr>\n<tr>\n<td style=\"color: white; background-color: #f36046; padding: 5px; border: 1px solid #d9d9d9; text-align: center;\"><strong>Physical Features<\/strong><\/td>\n<td style=\"padding: 5px; border: 1px solid #d9d9d9;\">\n<ul>\n<li>Slow weight gain<\/li>\n<li>Low muscle tone; muscle weakness<\/li>\n<li>Ataxia (problems walking, standing, etc.)<\/li>\n<li>Some differences in facial features observed<\/li>\n<\/ul>\n<\/td>\n<\/tr>\n<tr>\n<td style=\"color: white; background-color: #f36046; padding: 5px; border: 1px solid #d9d9d9; text-align: center;\"><strong>Dental Features<\/strong><\/td>\n<td style=\"padding: 5px; border: 1px solid #d9d9d9;\">\n<ul>\n<li>Enamel defects<\/li>\n<li>Discoloration<\/li>\n<li>Spacing of teeth<\/li>\n<\/ul>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>A recurrent de novo\u00a0CTBP1\u00a0mutation is associated with developmental delay, hypotonia, ataxia and tooth enamel defects Original research article by D.B. Beck\u00a0et al. (2016). Read the abstract here. The researchers performed whole exome sequencing on people affected with neurodevelopmental disorders, and their parents. They found four people with a change in the\u00a0CTBP1\u00a0gene. The\u00a0CTBP1\u00a0gene has a critical [&hellip;]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":439,"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\/6048"}],"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=6048"}],"version-history":[{"count":5,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6048\/revisions"}],"predecessor-version":[{"id":7874,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6048\/revisions\/7874"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/439"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=6048"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}