{"id":1013,"date":"2017-08-09T19:50:47","date_gmt":"2017-08-09T19:50:47","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1013"},"modified":"2026-02-24T21:02:13","modified_gmt":"2026-02-24T21:02:13","slug":"mutations-in-scaper-cause-autosomal-recessive-retinitis-pigmentosa-with-intellectual-disability","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/09\/mutations-in-scaper-cause-autosomal-recessive-retinitis-pigmentosa-with-intellectual-disability\/","title":{"rendered":"Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability (Contributed by Dr. Tamar Ben-Yosef)"},"content":{"rendered":"<p>Retinitis pigmentosa (RP) is a hereditary eye disease marked by progressive degeneration of the retina \u2013 the part of the eye that is home to the photosensitive cells. RP can occur by itself or in combination with other impairments. The latter cases are known as syndromic RP. We identified mutations in a gene named SCAPER in four patients from Israel and Spain, affected by RP and intellectual disability. This gene was not previously associated with a human disease. Our findings place SCAPER as a gene necessary for normal function of both the retina and the brain. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2017\/08\/09\/jmedgenet-2017-104632\">http:\/\/jmg.bmj.com\/content\/early\/2017\/08\/09\/jmedgenet-2017-104632<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/Benyosef-figure-for-blog.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1014\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/Benyosef-figure-for-blog-300x94.jpg\" alt=\"\" width=\"300\" height=\"94\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/Benyosef-figure-for-blog-300x94.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/Benyosef-figure-for-blog-768x241.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/Benyosef-figure-for-blog-1024x322.jpg 1024w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>SCAPER expression<strong>\u00a0<\/strong>pattern in the mouse retina.\u00a0<strong>(A)<\/strong>\u00a0Sagittal sections of adult mouse retina were immunostained with an anti-SCAPER antibody (red)<strong>;<\/strong>\u00a0<strong>(B)<\/strong>\u00a0DAPI nuclear staining (blue);\u00a0<strong>(C)<\/strong>\u00a0merge of images A and B.\u00a0SCAPER expression was observed in the retinal pigment epithelium (RPE), in photoreceptor outer segments (OS) and inner segments, including the outer nuclear layer (ONL), in the inner plexiform layer (IPL) and in the ganglion cell layer (GCL).\u00a0OS, outer segments; INL, inner nuclear layer. Scale bar, 20\u00b5m.<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Retinitis pigmentosa (RP) is a hereditary eye disease marked by progressive degeneration of the retina \u2013 the part of the eye that is home to the photosensitive cells. RP can occur by itself or in combination with other impairments. The latter cases are known as syndromic RP. We identified mutations in a gene named SCAPER [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/09\/mutations-in-scaper-cause-autosomal-recessive-retinitis-pigmentosa-with-intellectual-disability\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1013","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability (Contributed by Dr. Tamar Ben-Yosef) - JMG Contact blog<\/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:\/\/blogs.bmj.com\/jmg\/2017\/08\/09\/mutations-in-scaper-cause-autosomal-recessive-retinitis-pigmentosa-with-intellectual-disability\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability (Contributed by Dr. Tamar Ben-Yosef) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Retinitis pigmentosa (RP) is a hereditary eye disease marked by progressive degeneration of the retina \u2013 the part of the eye that is home to the photosensitive cells. RP can occur by itself or in combination with other impairments. The latter cases are known as syndromic RP. We identified mutations in a gene named SCAPER [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/09\/mutations-in-scaper-cause-autosomal-recessive-retinitis-pigmentosa-with-intellectual-disability\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2017-08-09T19:50:47+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T21:02:13+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/Benyosef-figure-for-blog.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"5765\" \/>\n\t<meta property=\"og:image:height\" content=\"1811\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/09\\\/mutations-in-scaper-cause-autosomal-recessive-retinitis-pigmentosa-with-intellectual-disability\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/09\\\/mutations-in-scaper-cause-autosomal-recessive-retinitis-pigmentosa-with-intellectual-disability\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability (Contributed by Dr. Tamar Ben-Yosef)\",\"datePublished\":\"2017-08-09T19:50:47+00:00\",\"dateModified\":\"2026-02-24T21:02:13+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/09\\\/mutations-in-scaper-cause-autosomal-recessive-retinitis-pigmentosa-with-intellectual-disability\\\/\"},\"wordCount\":199,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/09\\\/mutations-in-scaper-cause-autosomal-recessive-retinitis-pigmentosa-with-intellectual-disability\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/08\\\/Benyosef-figure-for-blog-300x94.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/09\\\/mutations-in-scaper-cause-autosomal-recessive-retinitis-pigmentosa-with-intellectual-disability\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/09\\\/mutations-in-scaper-cause-autosomal-recessive-retinitis-pigmentosa-with-intellectual-disability\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2017\\\/08\\\/09\\\/mutations-in-scaper-cause-autosomal-recessive-retinitis-pigmentosa-with-intellectual-disability\\\/\",\"name\":\"Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability (Contributed by Dr. Tamar Ben-Yosef) - 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