{"id":7204,"date":"2024-01-30T14:14:47","date_gmt":"2024-01-30T14:14:47","guid":{"rendered":"https:\/\/neuropediatoolkit.org\/?p=7204"},"modified":"2024-02-08T21:34:15","modified_gmt":"2024-02-08T21:34:15","slug":"indicacion-de-cosegregacion","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/fr\/indicacion-de-cosegregacion\/","title":{"rendered":"Indication de cos\u00e9gr\u00e9gation."},"content":{"rendered":"<p class=\"wp-block-paragraph\">R\u00e9aliser des \u00e9tudes de cos\u00e9gr\u00e9gation a 2 utilisations principales : <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Conseils en mati\u00e8re de reproduction. Gr\u00e2ce \u00e0 l'\u00e9tude des membres de la famille, des informations peuvent \u00eatre obtenues sur la pr\u00e9sence de porteurs asymptomatiques dans la famille dans laquelle il existe un risque \u00e9lev\u00e9 de transmission de maladies h\u00e9r\u00e9ditaires. Il faut v\u00e9rifier s\u2019il y a une intention reproductive dans la famille. <\/li>\n\n\n\n<li>R\u00e9analyse et reclassement des VSI. Dans les variantes de signification incertaine dans lesquelles il est pertinent de savoir s'il s'agit d'une variante de novo ou non, une \u00e9tude de cos\u00e9gr\u00e9gation peut \u00eatre r\u00e9alis\u00e9e pour obtenir cette information. <\/li>\n\n\n\n<li>L\u2019\u00e9mergence de novo est un crit\u00e8re ACMG utilis\u00e9 dans les classifications de pathog\u00e9nicit\u00e9. Si une nouvelle analyse aboutit \u00e0 une reclassification du pouvoir pathog\u00e8ne, celle-ci peut \u00eatre ou non cliniquement significative. Ceci est cliniquement significatif s'il produit un changement de VSI \u00e0 probablement pathog\u00e8ne. <\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"850\" height=\"442\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-19.png\" alt=\"\" class=\"wp-image-7269\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-19.png 850w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-19-300x156.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-19-768x399.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-19-18x9.png 18w\" sizes=\"(max-width: 850px) 100vw, 850px\" \/><\/figure>\n\n\n\n<ul class=\"wp-block-list\">\n<li>La probabilit\u00e9 de pathog\u00e9nicit\u00e9 d'un VSI \u00e9volue dans une fourchette tr\u00e8s \u00e9lev\u00e9e, entre 5 et 95 %, donc tous les VSI ne sont pas identiques. Certains sont sur le point d\u2019\u00eatre consid\u00e9r\u00e9s comme probablement b\u00e9nins, et d\u2019autres sont sur le point d\u2019\u00eatre reclass\u00e9s comme probablement pathog\u00e8nes. Il est donc important de conna\u00eetre la raison pour laquelle il a \u00e9t\u00e9 class\u00e9 VSI, notamment les crit\u00e8res ACMG auxquels il r\u00e9pond. <\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"1024\" height=\"219\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-18.png\" alt=\"\" class=\"wp-image-7267\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-18.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-18-300x64.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-18-768x164.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-18-18x4.png 18w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Il est \u00e9galement int\u00e9ressant de r\u00e9aliser une simulation pr\u00e9alable, \u00e0 l'aide d'un syst\u00e8me informatique de calcul de probabilit\u00e9 de pathog\u00e9nicit\u00e9, pour d\u00e9cider s'il convient ou non de proc\u00e9der \u00e0 une co-s\u00e9gr\u00e9gation, selon que le respect dudit crit\u00e8re modifierait le classement. <\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>En ce sens, Varsome peut \u00eatre utilis\u00e9 pour \u00e9valuer la possibilit\u00e9 qu'un variant de signification incertaine change sa classification de pathog\u00e9nicit\u00e9 si l'on parvient \u00e0 d\u00e9montrer son origine de novo, c'est-\u00e0-dire en r\u00e9pondant aux crit\u00e8res PM6 ou PS2.<\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full is-resized\"><img decoding=\"async\" width=\"900\" height=\"732\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-7.png\" alt=\"\" class=\"wp-image-7243\" style=\"width:800px;height:auto\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-7.png 900w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-7-300x244.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-7-768x625.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-7-15x12.png 15w\" sizes=\"(max-width: 900px) 100vw, 900px\" \/><\/figure>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"300\" height=\"244\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-8-edited.png\" alt=\"\" class=\"wp-image-7245\" style=\"width:510px;height:auto\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-8-edited.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-8-edited-15x12.png 15w\" sizes=\"(max-width: 300px) 100vw, 300px\" \/><\/figure>\n<\/div>\n\n\n<p class=\"wp-block-paragraph\">Exemple : Variant class\u00e9 comme probablement pathog\u00e8ne, qui apr\u00e8s application du crit\u00e8re PS2 est reclass\u00e9 comme pathog\u00e8ne. <\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"465\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-12-1024x465.png\" alt=\"\" class=\"wp-image-7250\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-12-1024x465.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-12-300x136.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-12-768x349.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-12-1536x698.png 1536w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-12-18x8.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-12-1568x713.png 1568w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-12.png 1837w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"453\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-13-1024x453.png\" alt=\"\" class=\"wp-image-7251\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-13-1024x453.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-13-300x133.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-13-768x340.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-13-1536x679.png 1536w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-13-18x8.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-13-1568x693.png 1568w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-13.png 1807w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"458\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-14-1024x458.png\" alt=\"\" class=\"wp-image-7252\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-14-1024x458.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-14-300x134.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-14-768x343.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-14-1536x687.png 1536w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-14-18x8.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-14-1568x701.png 1568w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-14.png 1800w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Exemple 2 : Variant probablement pathog\u00e8ne reclass\u00e9 comme pathog\u00e8ne.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"464\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-9-1024x464.png\" alt=\"\" class=\"wp-image-7247\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-9-1024x464.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-9-300x136.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-9-768x348.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-9-1536x696.png 1536w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-9-18x8.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-9-1568x711.png 1568w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-9.png 1875w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"475\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-11-1024x475.png\" alt=\"\" class=\"wp-image-7249\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-11-1024x475.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-11-300x139.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-11-768x356.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-11-1536x712.png 1536w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-11-18x8.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-11-1568x727.png 1568w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-11.png 1879w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"472\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-10-1024x472.png\" alt=\"\" class=\"wp-image-7248\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-10-1024x472.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-10-300x138.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-10-768x354.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-10-1536x708.png 1536w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-10-18x8.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-10-1568x722.png 1568w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-10.png 1845w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<div data-wp-interactive=\"core\/file\" class=\"wp-block-file\"><object data-wp-bind--hidden=\"!state.hasPdfPreview\" hidden class=\"wp-block-file__embed\" data=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/Implementation-of-ACMG-Guidelines-1-1.pdf\" type=\"application\/pdf\" style=\"width:100%;height:600px\" aria-label=\"Int de lignoussion - ACMG - guidelines .\"><\/object><a id=\"wp-block-file--media-15288021-6285-460a-8cf6-c1ac6eac7bf5\" href=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/Implementation-of-ACMG-Guidelines-1-1.pdf\">Mise en \u0153uvre des lignes directrices de l'ACMG-1-1<\/a><a href=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/Implementation-of-ACMG-Guidelines-1-1.pdf\" class=\"wp-block-file__button wp-element-button\" download aria-describedby=\"wp-block-file--media-15288021-6285-460a-8cf6-c1ac6eac7bf5\">D\u00e9charge<\/a><\/div>","protected":false},"excerpt":{"rendered":"<p>La r\u00e9alisation d'\u00e9tudes de cos\u00e9gr\u00e9gation a 2 utilit\u00e9s principales : Exemple : Variant class\u00e9 comme probablement pathog\u00e8ne, qui apr\u00e8s application du crit\u00e8re PS2 est reclass\u00e9 comme pathog\u00e8ne. Exemple 2 : Variant probablement pathog\u00e8ne reclass\u00e9 comme pathog\u00e8ne.<\/p>","protected":false},"author":1,"featured_media":7209,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10],"tags":[],"class_list":["post-7204","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/posts\/7204","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/comments?post=7204"}],"version-history":[{"count":8,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/posts\/7204\/revisions"}],"predecessor-version":[{"id":7274,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/posts\/7204\/revisions\/7274"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/media\/7209"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/media?parent=7204"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/categories?post=7204"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/fr\/wp-json\/wp\/v2\/tags?post=7204"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}