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This novel form of connective tissue disorder was recently reported in patients of Japanese, Turkish, and Indian descent who were formerly classified as having EDS type VIB and has now been recognized to be a part of spectrum including patients previously classified as having adducted thumb\u2010clubfoot syndrome. We identified a previously unreported mutation in the<jats:italic>CHST14<\/jats:italic>gene, which codes for the enzyme dermatan 4\u2010<jats:italic>O<\/jats:italic>\u2010sulfotransferase. We discuss the prenatal presentation, detailed clinical manifestations, and neurological findings in two sisters with this newly described musculocontractural EDS\u2010CHST14 type. We demonstrate that fibroblasts from one of our patients produce more chondroitin sulfate than normal and show lower than normal deposition of collagens I and II and fibrillin 1\u2010containing microfibrills. These findings suggest that the imbalance in the glycosaminoglycan content in developing tissues might interfere with normal deposition of other extracellular matrix components and ultimately contribute to the development of the phenotype observed in these patients. Furthermore, we ruled out the contribution of intrinsic platelet factors to the bleeding diathesis observed in some affected individuals. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35339","type":"journal-article","created":{"date-parts":[[2012,5,11]],"date-time":"2012-05-11T19:52:31Z","timestamp":1336765951000},"page":"1344-1354","source":"Crossref","is-referenced-by-count":30,"title":["Extracellular matrix and platelet function in patients with musculocontractural Ehlers\u2013Danlos syndrome caused by mutations in the<i>CHST14<\/i>gene"],"prefix":"10.1002","volume":"158A","author":[{"given":"Roberto","family":"Mendoza\u2010Londono","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walter 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