{"id":12343,"date":"2022-01-15T18:00:31","date_gmt":"2022-01-15T17:00:31","guid":{"rendered":"https:\/\/www.cutislaxa.org\/?p=12343"},"modified":"2022-02-13T18:02:43","modified_gmt":"2022-02-13T17:02:43","slug":"nuevas-mutaciones-2","status":"publish","type":"post","link":"https:\/\/www.cutislaxa.org\/es\/nuevas-mutaciones-2\/","title":{"rendered":"NUEVAS MUTACIONES"},"content":{"rendered":"

Recientemente se han descubierto 4 mutaciones gen\u00e9ticas nuevas:<\/em><\/p>\n

LOX<\/u><\/em>: Este gen de la familia de la 5-lisil oxidasa est\u00e1 implicado en el inicio de la reticulaci\u00f3n de la elastina y el col\u00e1geno. La mutaci\u00f3n induce s\u00edntomas cardiovasculares, respiratorios y \u00f3seos, en particular fracturas espont\u00e1neas. Por ello, inicialmente se consider\u00f3 que pod\u00eda tratarse de una forma de osteog\u00e9nesis imperfecta (enfermedad de los huesos de cristal). Sin embargo, la presencia de fibras el\u00e1sticas fragmentadas permiti\u00f3 incluir esta mutaci\u00f3n en la Cutis Laxa. Se trata de una forma recesiva.<\/p>\n

 <\/p>\n

EFEMP1 <\/u><\/em>(Fibulina3)<\/u>: Esta mutaci\u00f3n provoca m\u00faltiples hernias e hipermovilidad articular, adem\u00e1s de piel laxa, as\u00ed como un leve d\u00e9ficit intelectual. Es una nueva forma recesiva de Cutis Laxa.<\/p>\n

\u00a0<\/u><\/strong><\/p>\n

LTBP1<\/u><\/em>: Con esta mutaci\u00f3n se ha observado piel laxa, hernias inguinales, dismorfismo facial, diversos trastornos card\u00edacos y caracter\u00edsticas esquel\u00e9ticas marcadas (baja estatura, braquidactilia, craneosinostosis, …). Tambi\u00e9n es una forma recesiva de Cutis Laxa.<\/p>\n

 <\/p>\n

PI4K2A<\/u><\/em>: Esta cuarta mutaci\u00f3n nueva se caracteriza por los siguientes s\u00edntomas cl\u00ednicos: piel laxa, movimientos involuntarios (trastorno neurol\u00f3gico), dismorfia y retraso intelectual. De nuevo se trata de una forma recesiva.<\/p>\n

 <\/p>\n

Recientemente se ha descubierto una quinta mutaci\u00f3n nueva y estamos impacientes por que se publique para poder hablar de ella.<\/p>\n

 <\/p>\n

Gracias a todos los investigadores por su excepcional trabajo en el conocimiento b\u00e1sico de la Cutis Laxa. Todos estos descubrimientos nos permiten atender mejor a los pacientes y ofrecerles la mejor calidad de vida posible..<\/p>\n","protected":false},"excerpt":{"rendered":"

Recientemente se han descubierto 4 mutaciones gen\u00e9ticas nuevas: LOX: Este gen de la familia de la 5-lisil oxidasa est\u00e1 implicado en el inicio de la reticulaci\u00f3n de la elastina y el col\u00e1geno. La mutaci\u00f3n induce s\u00edntomas cardiovasculares, respiratorios y \u00f3seos, en particular fracturas espont\u00e1neas. Por ello, inicialmente se consider\u00f3 que pod\u00eda tratarse de una forma […]<\/p>\n","protected":false},"author":2,"featured_media":6594,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[74,79,73,76],"tags":[],"class_list":["post-12343","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-investigacion","category-investigacion-medicina-genetica","category-number-mutations-es","category-noticias"],"yoast_head":"\nNUEVAS MUTACIONES - 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=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"NUEVAS MUTACIONES - CUTIS LAXA INTERNATIONALE\" \/>\n<meta property=\"og:description\" content=\"Recientemente se han descubierto 4 mutaciones gen\u00e9ticas nuevas: LOX: Este gen de la familia de la 5-lisil oxidasa est\u00e1 implicado en el inicio de la reticulaci\u00f3n de la elastina y el col\u00e1geno. La mutaci\u00f3n induce s\u00edntomas cardiovasculares, respiratorios y \u00f3seos, en particular fracturas espont\u00e1neas. 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