{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T01:24:22Z","timestamp":1779931462880,"version":"3.53.1"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,3,4]],"date-time":"2020-03-04T00:00:00Z","timestamp":1583280000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["16K08251"],"award-info":[{"award-number":["16K08251"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["19K07054"],"award-info":[{"award-number":["19K07054"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["19H03616"],"award-info":[{"award-number":["19H03616"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Musculocontractural Ehlers\u2013Danlos Syndrome (mcEDS) is a rare connective tissue disorder caused by biallelic loss\u2010of\u2010function variants in <jats:italic>CHST14<\/jats:italic> (mcEDS\u2010<jats:italic>CHST14<\/jats:italic>) or <jats:italic>DSE<\/jats:italic> (mcEDS\u2010<jats:italic>DSE<\/jats:italic>), both of which result in defective dermatan sulfate biosynthesis. Forty\u2010one patients with mcEDS\u2010<jats:italic>CHST14<\/jats:italic> and three patients with mcEDS\u2010<jats:italic>DSE<\/jats:italic> have been described in the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical, molecular, and glycobiological findings in three additional patients with mcEDS\u2010<jats:italic>DSE<\/jats:italic> were investigated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Three patients from two families shared craniofacial characteristics (hypertelorism, blue sclera, midfacial hypoplasia), skeletal features (pectus and spinal deformities, characteristic finger shapes, progressive talipes deformities), skin features (fine or acrogeria\u2010like palmar creases), and ocular refractive errors. Homozygous pathogenic variants in <jats:italic>DSE<\/jats:italic> were found: c.960T&gt;A\/p.Tyr320* in patient 1 and c.996dupT\/p.Val333Cysfs*4 in patients 2 and 3. No dermatan sulfate was detected in the urine sample from patient 1, suggesting a complete depletion of DS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>McEDS\u2010<jats:italic>DSE<\/jats:italic> is a congenital multisystem disorder with progressive symptoms involving craniofacial, skeletal, cutaneous, and cardiovascular systems, similar to the symptoms of mcEDS\u2010<jats:italic>CHST14<\/jats:italic>. However, the burden of symptoms seems lower in patients with mcEDS\u2010<jats:italic>DSE<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1197","type":"journal-article","created":{"date-parts":[[2020,3,4]],"date-time":"2020-03-04T17:53:58Z","timestamp":1583344438000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Delineation of musculocontractural Ehlers\u2013Danlos Syndrome caused by dermatan sulfate epimerase deficiency"],"prefix":"10.1002","volume":"8","author":[{"given":"Charlotte K.","family":"Lautrup","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Aalborg University Hospital Aalborg Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keng W.","family":"Teik","sequence":"additional","affiliation":[{"name":"Genetic Department Hospital Kuala Lumpur Kuala Lumpur 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