{"id":12340,"date":"2022-01-15T17:57:58","date_gmt":"2022-01-15T16:57:58","guid":{"rendered":"https:\/\/www.cutislaxa.org\/?p=12340"},"modified":"2022-02-13T18:00:16","modified_gmt":"2022-02-13T17:00:16","slug":"nouvelles-mutations-2","status":"publish","type":"post","link":"https:\/\/www.cutislaxa.org\/fr\/nouvelles-mutations-2\/","title":{"rendered":"NOUVELLES MUTATIONS"},"content":{"rendered":"<p style=\"text-align: center;\"><em>4 nouvelles mutations g\u00e9n\u00e9tiques ont \u00e9t\u00e9 d\u00e9couvertes r\u00e9cemment :<\/em><\/p>\n<p><em>LOX<\/em>\u00a0: Ce g\u00e8ne de la famille des 5-Lysyl oxidase est impliqu\u00e9 dans l\u2019initiation du cross-linking de l\u2019\u00e9lastine et du collag\u00e8ne. La mutation induit des sympt\u00f4mes cardiovasculaires, respiratoires et osseux, notamment des fractures spontan\u00e9es. C\u2019est pourquoi il avait \u00e9t\u00e9 consid\u00e9r\u00e9, en premi\u00e8re intention, que cela pourrait \u00eatre une forme d\u2019ost\u00e9og\u00e9n\u00e8se imparfaite (maladie des os de verre). Mais la pr\u00e9sence de fibres \u00e9lastiques fragment\u00e9es a permis d\u2019inclure cette mutation dans les Cutis Laxa. Cette forme est r\u00e9cessive<\/p>\n<p>&nbsp;<\/p>\n<p><em>EFEMP1 <\/em>(Fibulin3): Cette mutation a comme cons\u00e9quences, outre la peau laxe, de multiples hernies et une hypermobilit\u00e9 articulaire ainsi qu\u2019un l\u00e9ger d\u00e9ficit intellectuel. C\u2019est une nouvelle forme r\u00e9cessive de Cutis Laxa<\/p>\n<p><strong>\u00a0<\/strong><\/p>\n<p><em>LTBP1<\/em>\u00a0: Avec cette mutation, on a pu observer une peau laxe, des hernies inguinales, un dysmorphisme facial, divers troubles cardiaques et d\u2019importantes caract\u00e9ristiques squelettiques (petite taille, brachydactylie, craniosynostose, ..). C\u2019est \u00e9galement une forme r\u00e9cessive de Cutis Laxa.<\/p>\n<p>&nbsp;<\/p>\n<p><em>PI4K2A<\/em>\u00a0: Cette 4<sup>\u00e8me<\/sup> nouvelle mutation se caract\u00e9rise avec les signes cliniques suivants\u00a0: une peau laxe, des mouvements involontaires (trouble neurologique), une dysmorphie et un retard intellectuel. L\u00e0 encore il s\u2019agit d\u2019une forme r\u00e9cessive.<\/p>\n<p>&nbsp;<\/p>\n<p>Une 5<sup>\u00e8me<\/sup> nouvelle mutation a r\u00e9cemment \u00e9t\u00e9 d\u00e9couverte et nous attendons impatiemment sa publication pour pouvoir vous en parler.<\/p>\n<p>&nbsp;<\/p>\n<p>Merci \u00e0 tous les chercheurs pour leur travail exceptionnel dans la connaissance fondamentale des Cutis Laxa. Toutes ces d\u00e9couvertes permettent de mieux prendre en charge les malades et de leur offrir la meilleure qualit\u00e9 de vie possible.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>4 nouvelles mutations g\u00e9n\u00e9tiques ont \u00e9t\u00e9 d\u00e9couvertes r\u00e9cemment : LOX\u00a0: Ce g\u00e8ne de la famille des 5-Lysyl oxidase est impliqu\u00e9 dans l\u2019initiation du cross-linking de l\u2019\u00e9lastine et du collag\u00e8ne. La mutation induit des sympt\u00f4mes cardiovasculaires, respiratoires et osseux, notamment des fractures spontan\u00e9es. C\u2019est pourquoi il avait \u00e9t\u00e9 consid\u00e9r\u00e9, en premi\u00e8re intention, que cela pourrait \u00eatre [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":6589,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[59,61,60,66],"tags":[],"class_list":["post-12340","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-number-mutations-fr","category-quoi-de-neuf","category-recherche","category-recherche-medecine-genetique"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.0 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>NOUVELLES MUTATIONS - CUTIS LAXA INTERNATIONALE<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.cutislaxa.org\/new-mutations-3\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"NOUVELLES MUTATIONS - CUTIS LAXA INTERNATIONALE\" \/>\n<meta property=\"og:description\" content=\"4 nouvelles mutations g\u00e9n\u00e9tiques ont \u00e9t\u00e9 d\u00e9couvertes r\u00e9cemment : LOX\u00a0: Ce g\u00e8ne de la famille des 5-Lysyl oxidase est impliqu\u00e9 dans l\u2019initiation du cross-linking de l\u2019\u00e9lastine et du collag\u00e8ne. La mutation induit des sympt\u00f4mes cardiovasculaires, respiratoires et osseux, notamment des fractures spontan\u00e9es. C\u2019est pourquoi il avait \u00e9t\u00e9 consid\u00e9r\u00e9, en premi\u00e8re intention, que cela pourrait \u00eatre [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.cutislaxa.org\/new-mutations-3\/\" \/>\n<meta property=\"og:site_name\" content=\"CUTIS LAXA INTERNATIONALE\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/CutisLaxaAssociation\/\" \/>\n<meta property=\"article:published_time\" content=\"2022-01-15T16:57:58+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2022-02-13T17:00:16+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2017\/07\/gene-small.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"300\" \/>\n\t<meta property=\"og:image:height\" content=\"169\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Marie-Claude\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"\u00c9crit par\" \/>\n\t<meta name=\"twitter:data1\" content=\"Marie-Claude\" \/>\n\t<meta name=\"twitter:label2\" content=\"Dur\u00e9e de lecture estim\u00e9e\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/www.cutislaxa.org\/new-mutations-3\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.cutislaxa.org\/new-mutations-3\/\"},\"author\":{\"name\":\"Marie-Claude\",\"@id\":\"https:\/\/www.cutislaxa.org\/#\/schema\/person\/2b5e58dca5a6f412607f985f2823d045\"},\"headline\":\"NOUVELLES MUTATIONS\",\"datePublished\":\"2022-01-15T16:57:58+00:00\",\"dateModified\":\"2022-02-13T17:00:16+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/www.cutislaxa.org\/new-mutations-3\/\"},\"wordCount\":283,\"publisher\":{\"@id\":\"https:\/\/www.cutislaxa.org\/#organization\"},\"articleSection\":[\"Mutations\",\"Quoi de neuf\",\"Recherche\",\"Recherche - M\u00e9decine - G\u00e9n\u00e9tique\"],\"inLanguage\":\"fr-FR\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/www.cutislaxa.org\/new-mutations-3\/\",\"url\":\"https:\/\/www.cutislaxa.org\/new-mutations-3\/\",\"name\":\"NOUVELLES MUTATIONS - CUTIS LAXA INTERNATIONALE\",\"isPartOf\":{\"@id\":\"https:\/\/www.cutislaxa.org\/#website\"},\"datePublished\":\"2022-01-15T16:57:58+00:00\",\"dateModified\":\"2022-02-13T17:00:16+00:00\",\"breadcrumb\":{\"@id\":\"https:\/\/www.cutislaxa.org\/new-mutations-3\/#breadcrumb\"},\"inLanguage\":\"fr-FR\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/www.cutislaxa.org\/new-mutations-3\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\/\/www.cutislaxa.org\/new-mutations-3\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\/\/www.cutislaxa.org\/fr\/accueil\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"NOUVELLES MUTATIONS\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\/\/www.cutislaxa.org\/#website\",\"url\":\"https:\/\/www.cutislaxa.org\/\",\"name\":\"CUTIS LAXA INTERNATIONALE\",\"description\":\"\",\"publisher\":{\"@id\":\"https:\/\/www.cutislaxa.org\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\/\/www.cutislaxa.org\/?s={search_term_string}\"},\"query-input\":\"required name=search_term_string\"}],\"inLanguage\":\"fr-FR\"},{\"@type\":\"Organization\",\"@id\":\"https:\/\/www.cutislaxa.org\/#organization\",\"name\":\"Cutis Laxa Internationale\",\"url\":\"https:\/\/www.cutislaxa.org\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"fr-FR\",\"@id\":\"https:\/\/www.cutislaxa.org\/#\/schema\/logo\/image\/\",\"url\":\"https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2017\/12\/NEW-LOGO-CLI-4.png\",\"contentUrl\":\"https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2017\/12\/NEW-LOGO-CLI-4.png\",\"width\":417,\"height\":120,\"caption\":\"Cutis Laxa Internationale\"},\"image\":{\"@id\":\"https:\/\/www.cutislaxa.org\/#\/schema\/logo\/image\/\"},\"sameAs\":[\"https:\/\/www.facebook.com\/CutisLaxaAssociation\/\"]},{\"@type\":\"Person\",\"@id\":\"https:\/\/www.cutislaxa.org\/#\/schema\/person\/2b5e58dca5a6f412607f985f2823d045\",\"name\":\"Marie-Claude\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"fr-FR\",\"@id\":\"https:\/\/www.cutislaxa.org\/#\/schema\/person\/image\/\",\"url\":\"https:\/\/secure.gravatar.com\/avatar\/f56014046df7c736afcf45ec2d3ba3e6?s=96&d=mm&r=g\",\"contentUrl\":\"https:\/\/secure.gravatar.com\/avatar\/f56014046df7c736afcf45ec2d3ba3e6?s=96&d=mm&r=g\",\"caption\":\"Marie-Claude\"}}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"NOUVELLES MUTATIONS - CUTIS LAXA INTERNATIONALE","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/www.cutislaxa.org\/new-mutations-3\/","og_locale":"fr_FR","og_type":"article","og_title":"NOUVELLES MUTATIONS - CUTIS LAXA INTERNATIONALE","og_description":"4 nouvelles mutations g\u00e9n\u00e9tiques ont \u00e9t\u00e9 d\u00e9couvertes r\u00e9cemment : LOX\u00a0: Ce g\u00e8ne de la famille des 5-Lysyl oxidase est impliqu\u00e9 dans l\u2019initiation du cross-linking de l\u2019\u00e9lastine et du collag\u00e8ne. La mutation induit des sympt\u00f4mes cardiovasculaires, respiratoires et osseux, notamment des fractures spontan\u00e9es. C\u2019est pourquoi il avait \u00e9t\u00e9 consid\u00e9r\u00e9, en premi\u00e8re intention, que cela pourrait \u00eatre [&hellip;]","og_url":"https:\/\/www.cutislaxa.org\/new-mutations-3\/","og_site_name":"CUTIS LAXA INTERNATIONALE","article_publisher":"https:\/\/www.facebook.com\/CutisLaxaAssociation\/","article_published_time":"2022-01-15T16:57:58+00:00","article_modified_time":"2022-02-13T17:00:16+00:00","og_image":[{"width":300,"height":169,"url":"https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2017\/07\/gene-small.jpg","type":"image\/jpeg"}],"author":"Marie-Claude","twitter_card":"summary_large_image","twitter_misc":{"\u00c9crit par":"Marie-Claude","Dur\u00e9e de lecture estim\u00e9e":"2 minutes"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/www.cutislaxa.org\/new-mutations-3\/#article","isPartOf":{"@id":"https:\/\/www.cutislaxa.org\/new-mutations-3\/"},"author":{"name":"Marie-Claude","@id":"https:\/\/www.cutislaxa.org\/#\/schema\/person\/2b5e58dca5a6f412607f985f2823d045"},"headline":"NOUVELLES MUTATIONS","datePublished":"2022-01-15T16:57:58+00:00","dateModified":"2022-02-13T17:00:16+00:00","mainEntityOfPage":{"@id":"https:\/\/www.cutislaxa.org\/new-mutations-3\/"},"wordCount":283,"publisher":{"@id":"https:\/\/www.cutislaxa.org\/#organization"},"articleSection":["Mutations","Quoi de neuf","Recherche","Recherche - M\u00e9decine - G\u00e9n\u00e9tique"],"inLanguage":"fr-FR"},{"@type":"WebPage","@id":"https:\/\/www.cutislaxa.org\/new-mutations-3\/","url":"https:\/\/www.cutislaxa.org\/new-mutations-3\/","name":"NOUVELLES MUTATIONS - CUTIS LAXA INTERNATIONALE","isPartOf":{"@id":"https:\/\/www.cutislaxa.org\/#website"},"datePublished":"2022-01-15T16:57:58+00:00","dateModified":"2022-02-13T17:00:16+00:00","breadcrumb":{"@id":"https:\/\/www.cutislaxa.org\/new-mutations-3\/#breadcrumb"},"inLanguage":"fr-FR","potentialAction":[{"@type":"ReadAction","target":["https:\/\/www.cutislaxa.org\/new-mutations-3\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/www.cutislaxa.org\/new-mutations-3\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/www.cutislaxa.org\/fr\/accueil\/"},{"@type":"ListItem","position":2,"name":"NOUVELLES MUTATIONS"}]},{"@type":"WebSite","@id":"https:\/\/www.cutislaxa.org\/#website","url":"https:\/\/www.cutislaxa.org\/","name":"CUTIS LAXA INTERNATIONALE","description":"","publisher":{"@id":"https:\/\/www.cutislaxa.org\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/www.cutislaxa.org\/?s={search_term_string}"},"query-input":"required name=search_term_string"}],"inLanguage":"fr-FR"},{"@type":"Organization","@id":"https:\/\/www.cutislaxa.org\/#organization","name":"Cutis Laxa Internationale","url":"https:\/\/www.cutislaxa.org\/","logo":{"@type":"ImageObject","inLanguage":"fr-FR","@id":"https:\/\/www.cutislaxa.org\/#\/schema\/logo\/image\/","url":"https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2017\/12\/NEW-LOGO-CLI-4.png","contentUrl":"https:\/\/www.cutislaxa.org\/wp-content\/uploads\/2017\/12\/NEW-LOGO-CLI-4.png","width":417,"height":120,"caption":"Cutis Laxa Internationale"},"image":{"@id":"https:\/\/www.cutislaxa.org\/#\/schema\/logo\/image\/"},"sameAs":["https:\/\/www.facebook.com\/CutisLaxaAssociation\/"]},{"@type":"Person","@id":"https:\/\/www.cutislaxa.org\/#\/schema\/person\/2b5e58dca5a6f412607f985f2823d045","name":"Marie-Claude","image":{"@type":"ImageObject","inLanguage":"fr-FR","@id":"https:\/\/www.cutislaxa.org\/#\/schema\/person\/image\/","url":"https:\/\/secure.gravatar.com\/avatar\/f56014046df7c736afcf45ec2d3ba3e6?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/f56014046df7c736afcf45ec2d3ba3e6?s=96&d=mm&r=g","caption":"Marie-Claude"}}]}},"_links":{"self":[{"href":"https:\/\/www.cutislaxa.org\/fr\/wp-json\/wp\/v2\/posts\/12340","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.cutislaxa.org\/fr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.cutislaxa.org\/fr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.cutislaxa.org\/fr\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.cutislaxa.org\/fr\/wp-json\/wp\/v2\/comments?post=12340"}],"version-history":[{"count":2,"href":"https:\/\/www.cutislaxa.org\/fr\/wp-json\/wp\/v2\/posts\/12340\/revisions"}],"predecessor-version":[{"id":12342,"href":"https:\/\/www.cutislaxa.org\/fr\/wp-json\/wp\/v2\/posts\/12340\/revisions\/12342"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.cutislaxa.org\/fr\/wp-json\/wp\/v2\/media\/6589"}],"wp:attachment":[{"href":"https:\/\/www.cutislaxa.org\/fr\/wp-json\/wp\/v2\/media?parent=12340"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.cutislaxa.org\/fr\/wp-json\/wp\/v2\/categories?post=12340"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.cutislaxa.org\/fr\/wp-json\/wp\/v2\/tags?post=12340"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}