{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T08:44:08Z","timestamp":1790325848734,"version":"4.1.0"},"reference-count":42,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,2,10]],"date-time":"2016-02-10T00:00:00Z","timestamp":1455062400000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Carbohydrate sulfotransferase 14\/dermatan 4\u2010<jats:italic>O<\/jats:italic>\u2010sulfotransferase\u20101 (CHST14\/D4ST1) deficiency represents a specific form of Ehlers\u2013Danlos syndrome (EDS) caused by recessive loss\u2010of\u2010function mutations in <jats:italic>CHST14<\/jats:italic>. The disorder has been independently termed \u201cadducted thumb\u2013clubfoot syndrome\u201d, \u201cEDS, Kosho type\u201d, and \u201cEDS, musculocontractural type\u201d. To date, 31 affected patients from 21 families have been described. Clinically, CHST14\/D4ST1 deficiency is characterized by multiple congenital malformations (craniofacial features including large fontanelle, hypertelorism, short and downslanting palpebral fissures, blue sclerae, short nose with hypoplastic columella, low\u2010set and rotated ears, high palate, long philtrum, thin upper lip vermilion, small mouth, and micro\u2010retrognathia; multiple congenital contractures including adduction\u2013flexion contractures and talipes equinovarus as well as other visceral or ophthalmological malformations) and progressive multisystem fragility\u2010related complications (skin hyperextensibility, bruisability, and fragility with atrophic scars; recurrent dislocations; progressive talipes or spinal deformities; pneumothorax or pneumohemothorax; large subcutaneous hematomas; and diverticular perforation). Etiologically, multisystem fragility is presumably caused by impaired assembly of collagen fibrils resulting from loss of dermatan sulfate (DS) in the decorin glycosaminoglycan side chain that promotes electrostatic binding between collagen fibrils. This is the first reported human disorder that specifically affects biosynthesis of DS. Its clinical characteristics indicate that CHST14\/D4ST1 and, more fundamentally, DS, play a critical role in fetal development and maintenance of connective tissues in multiple organs. Considering that patients with CHST14\/D4ST1 deficiency develop progressive multisystem fragility\u2010related manifestations, establishment of a comprehensive and detailed natural history and health\u2010care guidelines as well as further elucidation of the pathophysiology in view of future etiology\u2010based therapy are crucial.<\/jats:p>","DOI":"10.1111\/ped.12878","type":"journal-article","created":{"date-parts":[[2015,12,9]],"date-time":"2015-12-09T12:13:59Z","timestamp":1449663239000},"page":"88-99","source":"Crossref","is-referenced-by-count":52,"title":["CHST14\/D4ST1 deficiency: New form of Ehlers\u2013Danlos syndrome"],"prefix":"10.1111","volume":"58","author":[{"given":"Tomoki","family":"Kosho","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine  Matsumoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,2,10]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471221929.ch9"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI12881"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.5772\/55026"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.11.010"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33498"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21300"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21355"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1997.tb02417.x"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200110000-00012"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000410)91:4<280::AID-AJMG8>3.0.CO;2-B"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.4.265"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30965"},{"key":"e_1_2_9_15_1","first-page":"255","article-title":"Ehlers\u2010Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin","volume":"30","author":"Steinmann B","year":"1975","journal-title":"Helv. 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