{"id":652,"date":"2014-04-15T18:27:35","date_gmt":"2014-04-15T18:27:35","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=652"},"modified":"2026-02-25T19:46:42","modified_gmt":"2026-02-25T19:46:42","slug":"a-missense-mutation-in-the-splicing-factor-gene-dhx38-is-associated-with-early-onset-retinitis-pigmentosa-with-macular-coloboma","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2014\/04\/15\/a-missense-mutation-in-the-splicing-factor-gene-dhx38-is-associated-with-early-onset-retinitis-pigmentosa-with-macular-coloboma\/","title":{"rendered":"A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma (Contributed by Prof. dr. Frans P.M. Cremers)"},"content":{"rendered":"<p>Retinitis pigmentosa is a group of genetically inherited eye diseases which represents the most frequent cause of inherited blindness worldwide. Persons with retinitis pigmentosa experience night blindness, which is followed by tunnel vision due to the progressive degeneration of the light sensing cells called rods and cones. Approximately 60 different genes can be defective in retinitis pigmentosa. By sequence analysis of all 20.000 human genes, we could identify defects in <i>DHX38 <\/i>in 4 retinitis pigmentosa patients of a consanguineous Pakistani family. <i>DHX38<\/i> encodes a protein that is important for the processing of RNA molecules, which are crucial intermediates between DNA and protein molecules. This finding enables genetic counseling in this family and provides new insights into the disease mechanism. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2014\/04\/15\/jmedgenet-2014-102316\">http:\/\/jmg.bmj.com\/content\/early\/2014\/04\/15\/jmedgenet-2014-102316<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Retinitis pigmentosa is a group of genetically inherited eye diseases which represents the most frequent cause of inherited blindness worldwide. Persons with retinitis pigmentosa experience night blindness, which is followed by tunnel vision due to the progressive degeneration of the light sensing cells called rods and cones. Approximately 60 different genes can be defective in [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2014\/04\/15\/a-missense-mutation-in-the-splicing-factor-gene-dhx38-is-associated-with-early-onset-retinitis-pigmentosa-with-macular-coloboma\/\">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-652","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>A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma (Contributed by Prof. dr. Frans P.M. Cremers) - 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\/2014\/04\/15\/a-missense-mutation-in-the-splicing-factor-gene-dhx38-is-associated-with-early-onset-retinitis-pigmentosa-with-macular-coloboma\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma (Contributed by Prof. dr. Frans P.M. Cremers) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Retinitis pigmentosa is a group of genetically inherited eye diseases which represents the most frequent cause of inherited blindness worldwide. Persons with retinitis pigmentosa experience night blindness, which is followed by tunnel vision due to the progressive degeneration of the light sensing cells called rods and cones. Approximately 60 different genes can be defective in [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2014\/04\/15\/a-missense-mutation-in-the-splicing-factor-gene-dhx38-is-associated-with-early-onset-retinitis-pigmentosa-with-macular-coloboma\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2014-04-15T18:27:35+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T19:46:42+00:00\" \/>\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\\\/2014\\\/04\\\/15\\\/a-missense-mutation-in-the-splicing-factor-gene-dhx38-is-associated-with-early-onset-retinitis-pigmentosa-with-macular-coloboma\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2014\\\/04\\\/15\\\/a-missense-mutation-in-the-splicing-factor-gene-dhx38-is-associated-with-early-onset-retinitis-pigmentosa-with-macular-coloboma\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma (Contributed by Prof. dr. 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