{"id":1516,"date":"2020-08-18T02:53:55","date_gmt":"2020-08-18T02:53:55","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1516"},"modified":"2026-02-23T23:50:46","modified_gmt":"2026-02-23T23:50:46","slug":"pathogenic-variants-in-impg1-cause-autosomal-dominant-and-autosomal-recessive-retinitis-pigmentosa","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/18\/pathogenic-variants-in-impg1-cause-autosomal-dominant-and-autosomal-recessive-retinitis-pigmentosa\/","title":{"rendered":"Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa (Contributed by Dr. Ga\u00ebl Manes)"},"content":{"rendered":"<p>Vitelliform macular dystrophy (VMD) and retinitis pigmentosa (RP) are major causes of inherited visual impairment. Mutations in the <em>IMPG1<\/em> gene have previously been described in patients with VMD. In the present study, we describe seven variants in <em>IMPG1<\/em> in 11 families and provide two additional <em>IMPG1<\/em>-associated diagnoses: autosomal dominant and autosomal recessive RP. <em>IMPG1<\/em> encodes the SPACR protein, a component of the rod and cone photoreceptor extracellular matrix domains. In addition, we describe the functional analysis of the medaka fish ortholog of the human <em>IMPG1<\/em> gene which indicates that SPACR plays an important role both in early retinal development and during later retinal maintenance. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/08\/17\/jmedgenet-2020-107150\">https:\/\/jmg.bmj.com\/content\/early\/2020\/08\/17\/jmedgenet-2020-107150<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/18\/pathogenic-variants-in-impg1-cause-autosomal-dominant-and-autosomal-recessive-retinitis-pigmentosa\/eq01_decembre_2018_v1\/\" rel=\"attachment wp-att-1517\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1517\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/EQ01_DECEMBRE_2018_V1-300x225.jpg\" alt=\"\" width=\"300\" height=\"225\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/EQ01_DECEMBRE_2018_V1-300x225.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/EQ01_DECEMBRE_2018_V1-1024x768.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/EQ01_DECEMBRE_2018_V1-768x576.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/EQ01_DECEMBRE_2018_V1-1536x1152.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/EQ01_DECEMBRE_2018_V1-2048x1536.jpg 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/EQ01_DECEMBRE_2018_V1-640x480.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Vitelliform macular dystrophy (VMD) and retinitis pigmentosa (RP) are major causes of inherited visual impairment. Mutations in the IMPG1 gene have previously been described in patients with VMD. In the present study, we describe seven variants in IMPG1 in 11 families and provide two additional IMPG1-associated diagnoses: autosomal dominant and autosomal recessive RP. IMPG1 encodes [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/18\/pathogenic-variants-in-impg1-cause-autosomal-dominant-and-autosomal-recessive-retinitis-pigmentosa\/\">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-1516","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa (Contributed by Dr. Ga\u00ebl Manes) - 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\/2020\/08\/18\/pathogenic-variants-in-impg1-cause-autosomal-dominant-and-autosomal-recessive-retinitis-pigmentosa\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa (Contributed by Dr. Ga\u00ebl Manes) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Vitelliform macular dystrophy (VMD) and retinitis pigmentosa (RP) are major causes of inherited visual impairment. Mutations in the IMPG1 gene have previously been described in patients with VMD. In the present study, we describe seven variants in IMPG1 in 11 families and provide two additional IMPG1-associated diagnoses: autosomal dominant and autosomal recessive RP. IMPG1 encodes [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/18\/pathogenic-variants-in-impg1-cause-autosomal-dominant-and-autosomal-recessive-retinitis-pigmentosa\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-08-18T02:53:55+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T23:50:46+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/EQ01_DECEMBRE_2018_V1-scaled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2560\" \/>\n\t<meta property=\"og:image:height\" content=\"1920\" \/>\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\\\/2020\\\/08\\\/18\\\/pathogenic-variants-in-impg1-cause-autosomal-dominant-and-autosomal-recessive-retinitis-pigmentosa\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/18\\\/pathogenic-variants-in-impg1-cause-autosomal-dominant-and-autosomal-recessive-retinitis-pigmentosa\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa (Contributed by Dr. Ga\u00ebl Manes)\",\"datePublished\":\"2020-08-18T02:53:55+00:00\",\"dateModified\":\"2026-02-23T23:50:46+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/18\\\/pathogenic-variants-in-impg1-cause-autosomal-dominant-and-autosomal-recessive-retinitis-pigmentosa\\\/\"},\"wordCount\":130,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/18\\\/pathogenic-variants-in-impg1-cause-autosomal-dominant-and-autosomal-recessive-retinitis-pigmentosa\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/08\\\/EQ01_DECEMBRE_2018_V1-300x225.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/18\\\/pathogenic-variants-in-impg1-cause-autosomal-dominant-and-autosomal-recessive-retinitis-pigmentosa\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/18\\\/pathogenic-variants-in-impg1-cause-autosomal-dominant-and-autosomal-recessive-retinitis-pigmentosa\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/08\\\/18\\\/pathogenic-variants-in-impg1-cause-autosomal-dominant-and-autosomal-recessive-retinitis-pigmentosa\\\/\",\"name\":\"Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa (Contributed by Dr. Ga\u00ebl Manes) - 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IMPG1 encodes [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/18\/pathogenic-variants-in-impg1-cause-autosomal-dominant-and-autosomal-recessive-retinitis-pigmentosa\/","og_site_name":"JMG Contact blog","article_published_time":"2020-08-18T02:53:55+00:00","article_modified_time":"2026-02-23T23:50:46+00:00","og_image":[{"width":2560,"height":1920,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/EQ01_DECEMBRE_2018_V1-scaled.jpg","type":"image\/jpeg"}],"author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/18\/pathogenic-variants-in-impg1-cause-autosomal-dominant-and-autosomal-recessive-retinitis-pigmentosa\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/18\/pathogenic-variants-in-impg1-cause-autosomal-dominant-and-autosomal-recessive-retinitis-pigmentosa\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa (Contributed by Dr. Ga\u00ebl Manes)","datePublished":"2020-08-18T02:53:55+00:00","dateModified":"2026-02-23T23:50:46+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/18\/pathogenic-variants-in-impg1-cause-autosomal-dominant-and-autosomal-recessive-retinitis-pigmentosa\/"},"wordCount":130,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/18\/pathogenic-variants-in-impg1-cause-autosomal-dominant-and-autosomal-recessive-retinitis-pigmentosa\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/08\/EQ01_DECEMBRE_2018_V1-300x225.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2020\/08\/18\/pathogenic-variants-in-impg1-cause-autosomal-dominant-and-autosomal-recessive-retinitis-pigmentosa\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/18\/pathogenic-variants-in-impg1-cause-autosomal-dominant-and-autosomal-recessive-retinitis-pigmentosa\/","url":"https:\/\/blogs.bmj.com\/jmg\/2020\/08\/18\/pathogenic-variants-in-impg1-cause-autosomal-dominant-and-autosomal-recessive-retinitis-pigmentosa\/","name":"Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa (Contributed by Dr. Ga\u00ebl Manes) - 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