{"id":38631,"date":"2019-09-27T08:45:27","date_gmt":"2019-09-27T12:45:27","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/processus-de-recherche\/les-maladies-genetiques-que-nous-etudions\/pacs1\/38631-2\/"},"modified":"2024-01-29T09:58:22","modified_gmt":"2024-01-29T14:58:22","slug":"38631-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/processus-de-recherche\/les-maladies-genetiques-que-nous-etudions\/pacs1\/38631-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>Des mutations de novo r\u00e9currentes dans PACS1 provoquent une migration d\u00e9fectueuse de la cr\u00eate cr\u00e2nienne et d\u00e9finissent un syndrome de d\u00e9ficience intellectuelle reconnaissable.<\/strong><\/h2>\n<p>Article de recherche original de J.H. Schuurs-Hoeijmakers <em>et al. <\/em>(2012).<\/p>\n<p>Lire le r\u00e9sum\u00e9 <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23159249\">ici<\/a>.<\/p>\n<p>Les chercheurs ont analys\u00e9 le mat\u00e9riel g\u00e9n\u00e9tique de plus de 5 000 personnes atteintes de d\u00e9ficience intellectuelle. Sur ces 5 000 personnes, deux ont \u00e9t\u00e9 identifi\u00e9es comme pr\u00e9sentant une d\u00e9ficience intellectuelle, des diff\u00e9rences similaires dans les traits du visage, des dispositions amicales et une modification du g\u00e8ne PACS1. Le s\u00e9quen\u00e7age de l&#8217;ensemble du g\u00e9nome de ces personnes et de leurs parents a montr\u00e9 que le changement n&#8217;\u00e9tait transmis par aucun des deux parents. Ces r\u00e9sultats sugg\u00e8rent qu&#8217;il pourrait y avoir un syndrome de d\u00e9ficience intellectuelle identifiable associ\u00e9 \u00e0 des changements dans le g\u00e8ne PACS1.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Des mutations de novo r\u00e9currentes dans PACS1 provoquent une migration d\u00e9fectueuse de la cr\u00eate cr\u00e2nienne et d\u00e9finissent un syndrome de d\u00e9ficience intellectuelle reconnaissable. Article de recherche original de J.H. Schuurs-Hoeijmakers et al. (2012). Lire le r\u00e9sum\u00e9 ici. Les chercheurs ont analys\u00e9 le mat\u00e9riel g\u00e9n\u00e9tique de plus de 5 000 personnes atteintes de d\u00e9ficience intellectuelle. Sur [&hellip;]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":38140,"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\/fr\/wp-json\/wp\/v2\/pages\/38631"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/users\/13"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/comments?post=38631"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38631\/revisions"}],"predecessor-version":[{"id":38636,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38631\/revisions\/38636"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38140"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=38631"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}