{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T13:43:08Z","timestamp":1773236588019,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2006,4,26]],"date-time":"2006-04-26T00:00:00Z","timestamp":1146009600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2006,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Diastrophic dysplasia sulfate transporter (DTDST) is a sulfate transporter required for the synthesis of sulfated proteoglycans in the cartilage. Over 30 mutations have been described in the <jats:italic>DTDST<\/jats:italic> gene, which result in a continuous clinical spectrum of recessively inherited chondrodysplasias, including, in order of increasing severity, a recessive form of multiple epiphyseal dysplasia (rMED), diastrophic dysplasia (DTD), atelosteogenesis type II (AO\u2010II) and achondrogenesis 1B (ACG\u20101B). Correlation between disease severity and residual sulfate transport activity has been reported. Here we report a patient with <jats:italic>DTDST<\/jats:italic> mutations, whose manifestations fell in a range between AO\u2010II and DTD. The patient was a compound heterozygote for the recurrent c.835C&gt;T (p.R279W) and novel c.1987G&gt;A (p.G663R) mutations. Immunocytochemical analysis in HEK293 cells showed that the p.G663R mutation was localized within the cytoplasm, and not to the cell membrane, suggesting p.G663R is a loss\u2010of\u2010function mutation. Our case supports the previously described correlation between the severity of the phenotype and the putative level of residual transport function. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31225","type":"journal-article","created":{"date-parts":[[2006,4,26]],"date-time":"2006-04-26T22:55:18Z","timestamp":1146092118000},"page":"1143-1147","source":"Crossref","is-referenced-by-count":10,"title":["A compound heterozygote harboring novel and recurrent <i>DTDST<\/i> mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia"],"prefix":"10.1002","volume":"140A","author":[{"given":"Koichi","family":"Maeda","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshinari","family":"Miyamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideaki","family":"Sawai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lawrence P.","family":"Karniski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eiji","family":"Nakashima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiro","family":"Ikegawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,4,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(00)00335-3"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.1.65"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90281-X"},{"key":"e_1_2_6_5_1","first-page":"255","article-title":"Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate\u2010transporter gene (DTDST): Evidence for a phenotypic series involving three chondrodysplasias","volume":"58","author":"Hastbacka J","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100380170036"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.14.1485"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh242"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050279"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M403248200"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0196-100"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N"},{"key":"e_1_2_6_14_1","first-page":"621","article-title":"Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation","volume":"36","author":"Superti\u2010Furga A","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0378-1119(94)90641-6"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31225","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31225","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T06:48:16Z","timestamp":1697093296000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31225"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,4,26]]},"references-count":14,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2006,6]]}},"alternative-id":["10.1002\/ajmg.a.31225"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31225","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,4,26]]}}}