{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T00:40:22Z","timestamp":1776300022775,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,5,23]],"date-time":"2003-05-23T00:00:00Z","timestamp":1053648000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Canadian Institute of Health Research (WGC)"},{"name":"Foundation for Pediatric Research, Maritza and Reino Salonen Foundation"},{"name":"ESPE Research Fellowship, sponsored by Novo Nordisk A\/S (OM)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the diastrophic dysplasia sulfate transporter (<jats:italic>DTDST<\/jats:italic>) gene result in a family of skeletal dysplasias, which comprise lethal (achondrogenesis type 1B and atelosteogenesis type 2) and non\u2010lethal conditions (diastrophic dysplasia and recessive multiple epiphyseal dysplasia (rMED)). The most frequent mutation is R279W, which in a homozygous state results in rMED with bilateral clubfoot, MED, and \u201cdouble layered\u201d patella. We describe three patients with rMED caused by a previously unreported homozygous mutation in the <jats:italic>DTDST<\/jats:italic> gene. The three patients (from two families) were born to healthy, non\u2010consanguineous parents. All developed signs of hip dysplasia in early childhood and two had episodes of recurrent patella dislocation. Two underwent bilateral total hip replacements at ages 13 and 14 years. The feet, external ears, and palate were normal. Stature was normal in all cases. Radiographs showed dysplastic femoral heads, mild generalized epiphyseal dysplasia, abnormal patella ossification, and normal hands and feet. Direct sequence analysis of genomic DNA demonstrated a homozygous 1984T\u2009&gt;\u2009A (C653S) change in the <jats:italic>DTDST<\/jats:italic> gene in all patients. The clinically normal parents were heterozygous for the change. This is the first description of a homozygous C653S mutation of the <jats:italic>DTDST<\/jats:italic> gene. Hip dysplasia and patella hypermobility dominates the otherwise mild phenotype. These patients further expand the range of causative mutations in the DTD skeletal dysplasia family. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20282","type":"journal-article","created":{"date-parts":[[2003,9,5]],"date-time":"2003-09-05T14:43:14Z","timestamp":1062772994000},"page":"187-192","source":"Crossref","is-referenced-by-count":49,"title":["Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the <i>DTDST<\/i> gene: Double\u2010layer patella as a reliable sign"],"prefix":"10.1002","volume":"122A","author":[{"given":"Outi","family":"M\u00e4kitie","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ravi","family":"Savarirayan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luisa","family":"Bonaf\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen","family":"Robertson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miki","family":"Susic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Superti\u2010Furga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William G.","family":"Cole","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,5,23]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.1.65"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0795-330"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng573"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050772"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/324023"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.3.191"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90281-X"},{"key":"e_1_2_5_9_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":"H\u00e4stbacka J","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.14.1485"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0196-103"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/302328"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0945-053X(98)90088-9"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.20.12307"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0196-100"},{"key":"e_1_2_5_17_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_5_18_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"}],"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.20282","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20282","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T20:07:44Z","timestamp":1700165264000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20282"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,5,23]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2003,10,15]]}},"alternative-id":["10.1002\/ajmg.a.20282"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20282","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,5,23]]}}}