{"id":1677,"date":"2021-11-24T14:49:13","date_gmt":"2021-11-24T14:49:13","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1677"},"modified":"2026-02-23T01:11:00","modified_gmt":"2026-02-23T01:11:00","slug":"clinical-and-molecular-features-of-66-patients-with-musculocontractural-ehlers%e2%88%92danlos-syndrome-caused-by-pathogenic-variants-in-chst14-mceds-chst14","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/11\/24\/clinical-and-molecular-features-of-66-patients-with-musculocontractural-ehlers%e2%88%92danlos-syndrome-caused-by-pathogenic-variants-in-chst14-mceds-chst14\/","title":{"rendered":"Clinical and molecular features of 66 patients with musculocontractural Ehlers\u2212Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14) (Contributed by Dr. Tomoki Kosho)"},"content":{"rendered":"<p>Musculocontractural Ehlers\u2212Danlos syndrome (mcEDS) is caused by biallelic loss-of-function variants in <em>CHST14<\/em> (mcEDS-<em>CHST14<\/em>) or <em>DSE<\/em>. To reveal the spectrum of variants, prevalence of various manifestations, and natural history of mcEDS-<em>CHST14<\/em>, we collected and evaluated detailed and comprehensive clinical and molecular information on 66 patients through international collaborations. Craniofacial, skeletal, cutaneous, and ocular features were common. Skeletal lesions (progressive deformities, joint dislocations) and large subcutaneous hematomas were the most serious complications, affecting patients\u2019 quality of live. This international collaborative study demonstrated that mcEDS-<em>CHST14<\/em> represents a multisystem disorder with unique set of clinical phenotypes require lifelong, multidisciplinary healthcare approaches. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2021\/11\/22\/jmedgenet-2020-107623\">https:\/\/jmg.bmj.com\/content\/early\/2021\/11\/22\/jmedgenet-2020-107623<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/11\/24\/clinical-and-molecular-features-of-66-patients-with-musculocontractural-ehlers%e2%88%92danlos-syndrome-caused-by-pathogenic-variants-in-chst14-mceds-chst14\/jmedgenet-2020-107623-r1\/\" rel=\"attachment wp-att-1678\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1678\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/11\/jmedgenet-2020-107623.R1--300x187.jpg\" alt=\"\" width=\"300\" height=\"187\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/11\/jmedgenet-2020-107623.R1--300x187.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/11\/jmedgenet-2020-107623.R1--1024x640.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/11\/jmedgenet-2020-107623.R1--768x480.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/11\/jmedgenet-2020-107623.R1--1536x959.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/11\/jmedgenet-2020-107623.R1--2048x1279.jpg 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/11\/jmedgenet-2020-107623.R1--640x400.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Musculocontractural Ehlers\u2212Danlos syndrome (mcEDS) is caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14) or DSE. To reveal the spectrum of variants, prevalence of various manifestations, and natural history of mcEDS-CHST14, we collected and evaluated detailed and comprehensive clinical and molecular information on 66 patients through international collaborations. Craniofacial, skeletal, cutaneous, and ocular features were common. [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/11\/24\/clinical-and-molecular-features-of-66-patients-with-musculocontractural-ehlers%e2%88%92danlos-syndrome-caused-by-pathogenic-variants-in-chst14-mceds-chst14\/\">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-1677","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>Clinical and molecular features of 66 patients with musculocontractural Ehlers\u2212Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14) (Contributed by Dr. Tomoki Kosho) - 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\/2021\/11\/24\/clinical-and-molecular-features-of-66-patients-with-musculocontractural-ehlers\u2212danlos-syndrome-caused-by-pathogenic-variants-in-chst14-mceds-chst14\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Clinical and molecular features of 66 patients with musculocontractural Ehlers\u2212Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14) (Contributed by Dr. Tomoki Kosho) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Musculocontractural Ehlers\u2212Danlos syndrome (mcEDS) is caused by biallelic loss-of-function variants in CHST14 (mcEDS-CHST14) or DSE. To reveal the spectrum of variants, prevalence of various manifestations, and natural history of mcEDS-CHST14, we collected and evaluated detailed and comprehensive clinical and molecular information on 66 patients through international collaborations. Craniofacial, skeletal, cutaneous, and ocular features were common. [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2021\/11\/24\/clinical-and-molecular-features-of-66-patients-with-musculocontractural-ehlers\u2212danlos-syndrome-caused-by-pathogenic-variants-in-chst14-mceds-chst14\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2021-11-24T14:49:13+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T01:11:00+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/11\/jmedgenet-2020-107623.R1-.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2248\" \/>\n\t<meta property=\"og:image:height\" content=\"1404\" \/>\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\\\/2021\\\/11\\\/24\\\/clinical-and-molecular-features-of-66-patients-with-musculocontractural-ehlers%e2%88%92danlos-syndrome-caused-by-pathogenic-variants-in-chst14-mceds-chst14\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/11\\\/24\\\/clinical-and-molecular-features-of-66-patients-with-musculocontractural-ehlers%e2%88%92danlos-syndrome-caused-by-pathogenic-variants-in-chst14-mceds-chst14\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Clinical and molecular features of 66 patients with musculocontractural Ehlers\u2212Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14) (Contributed by Dr. Tomoki Kosho)\",\"datePublished\":\"2021-11-24T14:49:13+00:00\",\"dateModified\":\"2026-02-23T01:11:00+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/11\\\/24\\\/clinical-and-molecular-features-of-66-patients-with-musculocontractural-ehlers%e2%88%92danlos-syndrome-caused-by-pathogenic-variants-in-chst14-mceds-chst14\\\/\"},\"wordCount\":128,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/11\\\/24\\\/clinical-and-molecular-features-of-66-patients-with-musculocontractural-ehlers%e2%88%92danlos-syndrome-caused-by-pathogenic-variants-in-chst14-mceds-chst14\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2021\\\/11\\\/jmedgenet-2020-107623.R1--300x187.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/11\\\/24\\\/clinical-and-molecular-features-of-66-patients-with-musculocontractural-ehlers%e2%88%92danlos-syndrome-caused-by-pathogenic-variants-in-chst14-mceds-chst14\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/11\\\/24\\\/clinical-and-molecular-features-of-66-patients-with-musculocontractural-ehlers%e2%88%92danlos-syndrome-caused-by-pathogenic-variants-in-chst14-mceds-chst14\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/11\\\/24\\\/clinical-and-molecular-features-of-66-patients-with-musculocontractural-ehlers%e2%88%92danlos-syndrome-caused-by-pathogenic-variants-in-chst14-mceds-chst14\\\/\",\"name\":\"Clinical and molecular features of 66 patients with musculocontractural Ehlers\u2212Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14) (Contributed by Dr. Tomoki Kosho) - 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To reveal the spectrum of variants, prevalence of various manifestations, and natural history of mcEDS-CHST14, we collected and evaluated detailed and comprehensive clinical and molecular information on 66 patients through international collaborations. Craniofacial, skeletal, cutaneous, and ocular features were common. 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