{"id":1552,"date":"2020-09-28T14:19:01","date_gmt":"2020-09-28T14:19:01","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1552"},"modified":"2026-02-23T23:38:57","modified_gmt":"2026-02-23T23:38:57","slug":"a-practical-approach-to-the-genetic-diagnosis-of-unsolved-dystrophinopathies-a-stepwise-strategy-in-the-genomic-era","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/09\/28\/a-practical-approach-to-the-genetic-diagnosis-of-unsolved-dystrophinopathies-a-stepwise-strategy-in-the-genomic-era\/","title":{"rendered":"A practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era (Contributed by Dr. Zhiying Xie)"},"content":{"rendered":"<p>Duchenne muscular dystrophy, the most common muscular dystrophy, and its other allelic forms of dystrophinopathies are caused by mutations in the <em>DMD<\/em> gene. Some patients with dystrophinopathies remain genetically undiagnosed after DNA-based routine genetic testing, most likely due to rare deep intronic variants and complex structural variants. To address this, we investigated <em>DMD<\/em>-related dystrophinopathies by using a stepwise genetic testing strategy (SGTS) which implements various molecular technologies. SGTS combines routine genetic testing followed by a more comprehensive evaluation of <em>DMD<\/em> for unsolved patients, including the stepwise analysis of dystrophin mRNA, short-read whole-gene <em>DMD<\/em> sequencing, long-read whole-gene <em>DMD<\/em> sequencing, and <em>in silico<\/em> bioinformatic analyses. Our full testing pipeline yielded a genetic diagnostic rate of 99.86% in 726 patients with dystrophinopathies and was also successful in identifying complex structural variants and intronic variants affecting splicing. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/09\/25\/jmedgenet-2020-107113\">https:\/\/jmg.bmj.com\/content\/early\/2020\/09\/25\/jmedgenet-2020-107113<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/09\/28\/a-practical-approach-to-the-genetic-diagnosis-of-unsolved-dystrophinopathies-a-stepwise-strategy-in-the-genomic-era\/untitled-36\/\" rel=\"attachment wp-att-1553\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1553\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/Untitled-300x155.png\" alt=\"\" width=\"300\" height=\"155\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/Untitled-300x155.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/Untitled-1024x528.png 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/Untitled-768x396.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/Untitled-1536x792.png 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/Untitled-2048x1056.png 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/Untitled-640x330.png 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Duchenne muscular dystrophy, the most common muscular dystrophy, and its other allelic forms of dystrophinopathies are caused by mutations in the DMD gene. Some patients with dystrophinopathies remain genetically undiagnosed after DNA-based routine genetic testing, most likely due to rare deep intronic variants and complex structural variants. To address this, we investigated DMD-related dystrophinopathies by [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/09\/28\/a-practical-approach-to-the-genetic-diagnosis-of-unsolved-dystrophinopathies-a-stepwise-strategy-in-the-genomic-era\/\">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-1552","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>A practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era (Contributed by Dr. Zhiying Xie) - 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\/09\/28\/a-practical-approach-to-the-genetic-diagnosis-of-unsolved-dystrophinopathies-a-stepwise-strategy-in-the-genomic-era\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"A practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era (Contributed by Dr. Zhiying Xie) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Duchenne muscular dystrophy, the most common muscular dystrophy, and its other allelic forms of dystrophinopathies are caused by mutations in the DMD gene. Some patients with dystrophinopathies remain genetically undiagnosed after DNA-based routine genetic testing, most likely due to rare deep intronic variants and complex structural variants. To address this, we investigated DMD-related dystrophinopathies by [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/09\/28\/a-practical-approach-to-the-genetic-diagnosis-of-unsolved-dystrophinopathies-a-stepwise-strategy-in-the-genomic-era\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-09-28T14:19:01+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T23:38:57+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/09\/Untitled.png\" \/>\n\t<meta property=\"og:image:width\" content=\"2435\" \/>\n\t<meta property=\"og:image:height\" content=\"1255\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\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\\\/09\\\/28\\\/a-practical-approach-to-the-genetic-diagnosis-of-unsolved-dystrophinopathies-a-stepwise-strategy-in-the-genomic-era\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/09\\\/28\\\/a-practical-approach-to-the-genetic-diagnosis-of-unsolved-dystrophinopathies-a-stepwise-strategy-in-the-genomic-era\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"A practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era (Contributed by Dr. Zhiying Xie)\",\"datePublished\":\"2020-09-28T14:19:01+00:00\",\"dateModified\":\"2026-02-23T23:38:57+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/09\\\/28\\\/a-practical-approach-to-the-genetic-diagnosis-of-unsolved-dystrophinopathies-a-stepwise-strategy-in-the-genomic-era\\\/\"},\"wordCount\":161,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/09\\\/28\\\/a-practical-approach-to-the-genetic-diagnosis-of-unsolved-dystrophinopathies-a-stepwise-strategy-in-the-genomic-era\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/09\\\/Untitled-300x155.png\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/09\\\/28\\\/a-practical-approach-to-the-genetic-diagnosis-of-unsolved-dystrophinopathies-a-stepwise-strategy-in-the-genomic-era\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/09\\\/28\\\/a-practical-approach-to-the-genetic-diagnosis-of-unsolved-dystrophinopathies-a-stepwise-strategy-in-the-genomic-era\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/09\\\/28\\\/a-practical-approach-to-the-genetic-diagnosis-of-unsolved-dystrophinopathies-a-stepwise-strategy-in-the-genomic-era\\\/\",\"name\":\"A practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era (Contributed by Dr. Zhiying Xie) - 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