{"id":1450,"date":"2020-05-08T16:55:59","date_gmt":"2020-05-08T16:55:59","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1450"},"modified":"2026-02-24T00:05:57","modified_gmt":"2026-02-24T00:05:57","slug":"diagnostic-yield-and-clinical-impact-of-exome-sequencing-in-early-onset-scoliosis-eos","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2020\/05\/08\/diagnostic-yield-and-clinical-impact-of-exome-sequencing-in-early-onset-scoliosis-eos\/","title":{"rendered":"Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS) (Contributed by Dr. Nan Wu)"},"content":{"rendered":"<p>Early-onset scoliosis (EOS), defined as clinical presentation of scoliosis before 10 years of age, can be associated with progressive pulmonary compromise and severe dysmorphic gross skeletal appearance if left untreated. In this study, Zhao et al. performed exome sequencing on a Chinese cohort of 447 patients with operative EOS and an US cohort of 13 patients with idiopathic EOS. They detected molecular diagnostic variants in 92 out of 447 (20.6%) Chinese EOS patients and one out of thirteen idiopathic EOS patients from the US cohort. The age at presentation, the number of organ systems involved, and the Cobb angle were the three top features predictive of a molecular diagnosis. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2020\/05\/07\/jmedgenet-2019-106823\">https:\/\/jmg.bmj.com\/content\/early\/2020\/05\/07\/jmedgenet-2019-106823<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/05\/08\/diagnostic-yield-and-clinical-impact-of-exome-sequencing-in-early-onset-scoliosis-eos\/figure-1-5\/\" rel=\"attachment wp-att-1451\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1451\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/05\/Figure-1-300x225.png\" alt=\"\" width=\"300\" height=\"225\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/05\/Figure-1-300x225.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/05\/Figure-1-1024x768.png 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/05\/Figure-1-768x576.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/05\/Figure-1-1536x1152.png 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/05\/Figure-1-2048x1536.png 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2020\/05\/Figure-1-640x480.png 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Early-onset scoliosis (EOS), defined as clinical presentation of scoliosis before 10 years of age, can be associated with progressive pulmonary compromise and severe dysmorphic gross skeletal appearance if left untreated. In this study, Zhao et al. performed exome sequencing on a Chinese cohort of 447 patients with operative EOS and an US cohort of 13 [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2020\/05\/08\/diagnostic-yield-and-clinical-impact-of-exome-sequencing-in-early-onset-scoliosis-eos\/\">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-1450","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS) (Contributed by Dr. Nan Wu) - 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\/05\/08\/diagnostic-yield-and-clinical-impact-of-exome-sequencing-in-early-onset-scoliosis-eos\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS) (Contributed by Dr. Nan Wu) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Early-onset scoliosis (EOS), defined as clinical presentation of scoliosis before 10 years of age, can be associated with progressive pulmonary compromise and severe dysmorphic gross skeletal appearance if left untreated. In this study, Zhao et al. performed exome sequencing on a Chinese cohort of 447 patients with operative EOS and an US cohort of 13 [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2020\/05\/08\/diagnostic-yield-and-clinical-impact-of-exome-sequencing-in-early-onset-scoliosis-eos\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2020-05-08T16:55:59+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T00:05:57+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2020\/05\/Figure-1.png\" \/>\n\t<meta property=\"og:image:width\" content=\"2999\" \/>\n\t<meta property=\"og:image:height\" content=\"2249\" \/>\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\\\/05\\\/08\\\/diagnostic-yield-and-clinical-impact-of-exome-sequencing-in-early-onset-scoliosis-eos\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/05\\\/08\\\/diagnostic-yield-and-clinical-impact-of-exome-sequencing-in-early-onset-scoliosis-eos\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS) (Contributed by Dr. Nan Wu)\",\"datePublished\":\"2020-05-08T16:55:59+00:00\",\"dateModified\":\"2026-02-24T00:05:57+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/05\\\/08\\\/diagnostic-yield-and-clinical-impact-of-exome-sequencing-in-early-onset-scoliosis-eos\\\/\"},\"wordCount\":128,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/05\\\/08\\\/diagnostic-yield-and-clinical-impact-of-exome-sequencing-in-early-onset-scoliosis-eos\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2020\\\/05\\\/Figure-1-300x225.png\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/05\\\/08\\\/diagnostic-yield-and-clinical-impact-of-exome-sequencing-in-early-onset-scoliosis-eos\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/05\\\/08\\\/diagnostic-yield-and-clinical-impact-of-exome-sequencing-in-early-onset-scoliosis-eos\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2020\\\/05\\\/08\\\/diagnostic-yield-and-clinical-impact-of-exome-sequencing-in-early-onset-scoliosis-eos\\\/\",\"name\":\"Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS) (Contributed by Dr. Nan Wu) - 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