{"id":38568,"date":"2019-09-25T10:45:16","date_gmt":"2019-09-25T14:45:16","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/38568-2\/"},"modified":"2024-01-29T09:58:17","modified_gmt":"2024-01-29T14:58:17","slug":"38568-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/fr\/38568-2\/","title":{"rendered":""},"content":{"rendered":"<h2><strong>Le s\u00e9quen\u00e7age cibl\u00e9 multiplexe identifie les g\u00e8nes mut\u00e9s de mani\u00e8re r\u00e9currente dans les troubles du spectre autistique<\/strong><\/h2>\n<p>Article de recherche original de B.K. O&#8217;Roak <em>et al.<\/em> (2012)<\/p>\n<p>Lire le r\u00e9sum\u00e9 <a href=\"http:\/\/www.ncbi.nlm.nih.gov\/pubmed\/23160955\">ici<\/a>.<\/p>\n<p>Les auteurs de cette \u00e9tude ont utilis\u00e9 le mat\u00e9riel g\u00e9n\u00e9tique de 2 446 personnes de la Simon Simplex Collection (SSC) pour rechercher 44 g\u00e8nes associ\u00e9s \u00e0 l&#8217;autisme. Le CSE comprend des enfants atteints d&#8217;autisme et de d\u00e9ficience intellectuelle. Cette \u00e9tude a permis d&#8217;identifier plus de 100 nouveaux g\u00e8nes candidats li\u00e9s au retard de d\u00e9veloppement, \u00e0 la d\u00e9ficience intellectuelle et\/ou aux caract\u00e9ristiques de l&#8217;autisme. Des mutations dans seulement deux g\u00e8nes &#8211; CHD8 et NTNG1 &#8211; ont \u00e9t\u00e9 trouv\u00e9es chez plus d&#8217;une personne, et une analyse plus pouss\u00e9e de six g\u00e8nes sp\u00e9cifiques (FOXP1, GRIN2B, LAMC3, SCN1A, FOXP2 et GRIN2A) a r\u00e9v\u00e9l\u00e9 des mutations suppl\u00e9mentaires dans trois de ces g\u00e8nes &#8211; GRIN2B, LAMC3 et SCN1A &#8211; sugg\u00e9rant qu&#8217;il existe de nombreuses causes g\u00e9n\u00e9tiques diff\u00e9rentes de l&#8217;autisme et de la d\u00e9ficience intellectuelle.<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Le s\u00e9quen\u00e7age cibl\u00e9 multiplexe identifie les g\u00e8nes mut\u00e9s de mani\u00e8re r\u00e9currente dans les troubles du spectre autistique Article de recherche original de B.K. O&#8217;Roak et al. (2012) Lire le r\u00e9sum\u00e9 ici. Les auteurs de cette \u00e9tude ont utilis\u00e9 le mat\u00e9riel g\u00e9n\u00e9tique de 2 446 personnes de la Simon Simplex Collection (SSC) pour rechercher 44 g\u00e8nes [&hellip;]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":0,"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\/38568"}],"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=38568"}],"version-history":[{"count":1,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38568\/revisions"}],"predecessor-version":[{"id":38572,"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/pages\/38568\/revisions\/38572"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/fr\/wp-json\/wp\/v2\/media?parent=38568"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}