{"id":2831,"date":"2022-10-02T08:12:30","date_gmt":"2022-10-02T08:12:30","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=2831"},"modified":"2026-06-22T16:28:10","modified_gmt":"2026-06-22T16:28:10","slug":"delecciones-intragenicas-exon-level-deletions","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/delecciones-intragenicas-exon-level-deletions\/","title":{"rendered":"Gross deletions intragenic (exon-level deletions)."},"content":{"rendered":"<div id=\"wp-block-themeisle-blocks-accordion-4f72f87e\" class=\"wp-block-themeisle-blocks-accordion\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Mutational mechanisms are not the same for all diseases. There are some diseases in which deletions are more frequent than point mutations. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"685\" height=\"425\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-31.png\" alt=\"\" class=\"wp-image-2832\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-31.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-31-300x186.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-31-18x12.png 18w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><figcaption>https:\/\/www.nature.com\/articles\/gim200934<\/figcaption><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Intragenic deletions (deletions the size of an <a href=\"https:\/\/en.wikipedia.org\/wiki\/Exon\">exon<\/a>) can be difficult to identify using current sequencing techniques, and may also go undetected by aCGH technology (depending on probe density).<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-full is-resized\"><img decoding=\"async\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-33.png\" alt=\"\" class=\"wp-image-2835\" width=\"608\" height=\"629\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-33.png 370w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-33-290x300.png 290w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-33-12x12.png 12w\" sizes=\"(max-width: 608px) 100vw, 608px\" \/><figcaption>https:\/\/www.mrcholland.com\/technology\/mlpa<\/figcaption><\/figure>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Intragenic deletions are of particular importance from a therapeutic standpoint, as in some cases they are candidates for exon-skipping therapy <a href=\"https:\/\/en.wikipedia.org\/wiki\/Exon_skipping\">(exon-skipping)<\/a>.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"301\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-32-1024x301.png\" alt=\"\" class=\"wp-image-2833\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-32-1024x301.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-32-300x88.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-32-768x226.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-32-1536x451.png 1536w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-32-2048x602.png 2048w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-32-18x5.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-32-1568x461.png 1568w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><figcaption>https:\/\/www.mdpi.com\/2075-4426\/8\/4\/41\/htm<\/figcaption><\/figure>\n\n\n\n<p>For Duchenne disease, there is a <a href=\"https:\/\/www.parentprojectmd.org\/wp-content\/exondeletiontool\/\">online calculator<\/a> to know if a specific deletion is a candidate for exon-skipping therapy. <\/p>\n<\/div><\/details>\n<\/div>","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":2833,"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-2831","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\/2831","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=2831"}],"version-history":[{"count":1,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2831\/revisions"}],"predecessor-version":[{"id":8207,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2831\/revisions\/8207"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/2833"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=2831"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=2831"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=2831"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}