{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T21:43:05Z","timestamp":1790026985426,"version":"4.0.1"},"reference-count":36,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,9,16]],"date-time":"2015-09-16T00:00:00Z","timestamp":1442361600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100008367","name":"Danish National Science Foundation","doi-asserted-by":"publisher","award":["310030_138288"],"award-info":[{"award-number":["310030_138288"]}],"id":[{"id":"10.13039\/100008367","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>The musculocontractural type of Ehlers\u2010Danlos syndrome (MC\u2010EDS) has been recently recognized as a clinical entity. MC\u2010EDS represents a differential diagnosis within the congenital neuromuscular and connective tissue disorders spectrum. Thirty\u2010one and three patients have been reported with MC\u2010EDS so far with bi\u2010allelic mutations identified in <jats:italic>CHST14<\/jats:italic> and <jats:italic>DSE<\/jats:italic>, respectively, encoding two enzymes necessary for dermatan sulfate (DS) biosynthesis. We report seven additional patients with MC\u2010EDS from four unrelated families, including the follow\u2010up of a sib\u2010pair originally reported with the kyphoscoliotic type of EDS in 1975. Brachycephaly, a characteristic facial appearance, an asthenic build, hyperextensible and bruisable skin, tapering fingers, instability of large joints, and recurrent formation of large subcutaneous hematomas are always present. Three of seven patients had mildly elevated serum creatine kinase. The oldest patient was blind due to retinal detachment at 45 years and died at 59 years from intracranial bleeding; her affected brother died at 28 years from fulminant endocarditis. All patients in this series harbored homozygous, predicted loss\u2010of\u2010function <jats:italic>CHST14<\/jats:italic> mutations. Indeed, DS was not detectable in fibroblasts from two unrelated patients with homozygous mutations. Patient fibroblasts produced higher amounts of chondroitin sulfate, showed intracellular retention of collagen types I and III, and lacked decorin and thrombospondin fibrils compared with control. A great proportion of collagen fibrils were not integrated into fibers, and fiber bundles were dispersed into the ground substance in one patient, all of which is likely to contribute to the clinical phenotype. This report should increase awareness for MC\u2010EDS. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37383","type":"journal-article","created":{"date-parts":[[2015,9,16]],"date-time":"2015-09-16T07:49:47Z","timestamp":1442389787000},"page":"103-115","source":"Crossref","is-referenced-by-count":58,"title":["The phenotype of the musculocontractural type of Ehlers\u2010Danlos syndrome due to <i>CHST14<\/i> mutations"],"prefix":"10.1002","volume":"170","author":[{"given":"Andreas R.","family":"Janecke","sequence":"first","affiliation":[{"name":"Department of Pediatrics I Innsbruck Medical University Innsbruck Austria"},{"name":"Division of Human Genetics Innsbruck Medical University Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics University of California San Francisco 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