{"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\/en\/indicacion-de-cosegregacion\/","title":{"rendered":"Indicaci\u00f3n de cosegregaci\u00f3n."},"content":{"rendered":"<p>La realizaci\u00f3n de estudios de cosegregaci\u00f3n tiene 2 utilidades principales: <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Consejo reproductivo. A trav\u00e9s del estudio de los familiares se puede obtener informaci\u00f3n sobre la presencia de portadores asintom\u00e1ticos en la familia en los que exista un riesgo elevado de transmisi\u00f3n de enfermedades hereditarias. Es necesario consultar si existe intenci\u00f3n reproductiva en la familia. <\/li>\n\n\n\n<li>Rean\u00e1lisis y reclasificaci\u00f3n de VSI. En aquellas variantes de significado incierto en las que sea relevante conocer si se trata de una variante de novo o no, se puede realizar un estudio de cosegregaci\u00f3n para conseguir esta informaci\u00f3n. <\/li>\n\n\n\n<li>La aparici\u00f3n de novo es un criterio de la ACMG utilizado en la clasificaciones de patogenicidad. Si el rean\u00e1lisis produce una reclasificaci\u00f3n de patogenicidad, puede ser cl\u00ednicamente significativa o no serlo. \u00c9sta es cl\u00ednicamente significativa si produce un cambio desde VSI a probablemente patog\u00e9nica. <\/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 probabilidad de patogenicidad de una VSI se mueve en un rango muy elevado, entre el 5 y el 95%, por lo tanto no todas las VSI son iguales. Algunas est\u00e1n muy cerca de considerarse probablemente benignas, y otras cerca de reclasificarse como probablemente patog\u00e9nicas. Es importante por lo tanto conocer el motivo por el que se ha clasificado como VSI, en particular, los criterios de la ACMG que cumple. <\/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>Tambi\u00e9n es interesante realizar una simulaci\u00f3n previa, utilizando alg\u00fan sistema informatizado de c\u00e1lculo de probabilidad de patogenicidad, para decidir si merece la pena o no realizar la cosegregaci\u00f3n, en funci\u00f3n de si el cumplimiento de dicho criterio modificar\u00eda la clasificaci\u00f3n. <\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>En este sentido, puede utilizarse Varsome, para evaluar la posibilidad de que una variante de significado incierto cambie de clasificaci\u00f3n de patogenicidad si conseguimos demostrar su origen de novo, es decir, al cumplir los criterios PM6 o 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>Ejemplo: Variante clasificada como probablemente patog\u00e9nica, que tras aplicar el criterio PS2 se reclasifica como patog\u00e9nica. <\/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>Ejemplo 2: Variante probablemente patog\u00e9nica que se reclasifica como patog\u00e9nica.<\/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=\"Embed of Implementation-of-ACMG-Guidelines-1-1.\"><\/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\">Implementation-of-ACMG-Guidelines-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\">Download<\/a><\/div>","protected":false},"excerpt":{"rendered":"<p>La realizaci\u00f3n de estudios de cosegregaci\u00f3n tiene 2 utilidades principales: Ejemplo: Variante clasificada como probablemente patog\u00e9nica, que tras aplicar el criterio PS2 se reclasifica como patog\u00e9nica. Ejemplo 2: Variante probablemente patog\u00e9nica que se reclasifica como patog\u00e9nica.<\/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\/en\/wp-json\/wp\/v2\/posts\/7204","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=7204"}],"version-history":[{"count":8,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/7204\/revisions"}],"predecessor-version":[{"id":7274,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/7204\/revisions\/7274"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/7209"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=7204"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=7204"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=7204"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}