{"id":1120,"date":"2018-03-23T18:26:24","date_gmt":"2018-03-23T18:26:24","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1120"},"modified":"2026-02-24T15:55:47","modified_gmt":"2026-02-24T15:55:47","slug":"functional-and-clinical-relevance-of-novel-mutations-in-a-large-cohort-of-patients-with-cockayne-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2018\/03\/23\/functional-and-clinical-relevance-of-novel-mutations-in-a-large-cohort-of-patients-with-cockayne-syndrome\/","title":{"rendered":"Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome (Contributed by Professor Alan Lehmann)"},"content":{"rendered":"<p>Cockayne Syndrome (CS) is a rare inherited disorder with severe problems of growth and development in many parts of the body, as well as causing sun-sensitivity. In a four-centre study from scientists in Nagoya, Japan, Strasbourg, France, Pavia, Italy and Sussex, UK, we have identified the genetic mutations causing the disorder in 124 CS patients with different disease severity and ethnic backgrounds, and found 70 previously unreported mutations. Our study provides information relevant for diagnosis and genetic counselling, and will be of help in prognosis of this devastating disorder. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2018\/03\/22\/jmedgenet-2017-104877\">http:\/\/jmg.bmj.com\/content\/early\/2018\/03\/22\/jmedgenet-2017-104877<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/03\/Mugshots.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1121\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/03\/Mugshots-300x225.jpg\" alt=\"\" width=\"300\" height=\"225\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/03\/Mugshots-300x225.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2018\/03\/Mugshots-768x576.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2018\/03\/Mugshots.jpg 960w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Cockayne Syndrome (CS) is a rare inherited disorder with severe problems of growth and development in many parts of the body, as well as causing sun-sensitivity. In a four-centre study from scientists in Nagoya, Japan, Strasbourg, France, Pavia, Italy and Sussex, UK, we have identified the genetic mutations causing the disorder in 124 CS patients [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2018\/03\/23\/functional-and-clinical-relevance-of-novel-mutations-in-a-large-cohort-of-patients-with-cockayne-syndrome\/\">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-1120","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>Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome (Contributed by Professor Alan Lehmann) - 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\/2018\/03\/23\/functional-and-clinical-relevance-of-novel-mutations-in-a-large-cohort-of-patients-with-cockayne-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome (Contributed by Professor Alan Lehmann) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Cockayne Syndrome (CS) is a rare inherited disorder with severe problems of growth and development in many parts of the body, as well as causing sun-sensitivity. In a four-centre study from scientists in Nagoya, Japan, Strasbourg, France, Pavia, Italy and Sussex, UK, we have identified the genetic mutations causing the disorder in 124 CS patients [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2018\/03\/23\/functional-and-clinical-relevance-of-novel-mutations-in-a-large-cohort-of-patients-with-cockayne-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2018-03-23T18:26:24+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T15:55:47+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/03\/Mugshots.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"960\" \/>\n\t<meta property=\"og:image:height\" content=\"720\" \/>\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\\\/2018\\\/03\\\/23\\\/functional-and-clinical-relevance-of-novel-mutations-in-a-large-cohort-of-patients-with-cockayne-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/03\\\/23\\\/functional-and-clinical-relevance-of-novel-mutations-in-a-large-cohort-of-patients-with-cockayne-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome (Contributed by Professor Alan Lehmann)\",\"datePublished\":\"2018-03-23T18:26:24+00:00\",\"dateModified\":\"2026-02-24T15:55:47+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/03\\\/23\\\/functional-and-clinical-relevance-of-novel-mutations-in-a-large-cohort-of-patients-with-cockayne-syndrome\\\/\"},\"wordCount\":116,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/03\\\/23\\\/functional-and-clinical-relevance-of-novel-mutations-in-a-large-cohort-of-patients-with-cockayne-syndrome\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2018\\\/03\\\/Mugshots-300x225.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/03\\\/23\\\/functional-and-clinical-relevance-of-novel-mutations-in-a-large-cohort-of-patients-with-cockayne-syndrome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/03\\\/23\\\/functional-and-clinical-relevance-of-novel-mutations-in-a-large-cohort-of-patients-with-cockayne-syndrome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/03\\\/23\\\/functional-and-clinical-relevance-of-novel-mutations-in-a-large-cohort-of-patients-with-cockayne-syndrome\\\/\",\"name\":\"Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome (Contributed by Professor Alan Lehmann) - 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