{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T16:54:24Z","timestamp":1773420864740,"version":"3.50.1"},"reference-count":34,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2010,11,12]],"date-time":"2010-11-12T00:00:00Z","timestamp":1289520000000},"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":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in diastrophic dysplasia sulfate transporter (<jats:italic>DTDST<\/jats:italic>) cause a spectrum of autosomal recessive chondrodysplasias. In decreasing order of severity, they include processes designated as achondrogenesis type IB (ACG\u20101B), atelosteogenesis type II (AO2), diastrophic dysplasia (DTD), diastrophic dysplasia variant (DTDv), and recessively inherited multiple epiphyseal dysplasia (rMED). This is the first report of an extended family with unequivocally distinct phenotypes on the <jats:italic>DTDST<\/jats:italic> spectrum. Two siblings have DTDv and their first cousin had AO2. They all share the common Finnish mutation (IVS1\u2009+\u20092C&gt;T). The two patients with DTDv have the previously reported R279W extracellular domain missense mutation. The second mutation in the patient with AO2 is c.172delA, a deletion of one nucleotide causing a previously unreported frameshift mutation. This is the first published case of an individual with a frameshift mutation combined with the Finnish mutation. These three patients provide an opportunity, in concert with a review of previous literature, to further examine the genotype\u2013phenotype correlation of <jats:italic>DTDST<\/jats:italic>. Analysis suggests that, while the DTDST family of disorders contains at least seven different conditions, mutations in the <jats:italic>DTDST<\/jats:italic> gene, in fact, appear to cause a phenotypic continuum. Furthermore, <jats:italic>DTDST<\/jats:italic> genotype alone is an imperfect predictor of clinical severity along this continuum. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33736","type":"journal-article","created":{"date-parts":[[2010,11,12]],"date-time":"2010-11-12T19:21:21Z","timestamp":1289589681000},"page":"3043-3050","source":"Crossref","is-referenced-by-count":20,"title":["Genotype\u2013phenotype correlation in <i>DTDST<\/i> dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family"],"prefix":"10.1002","volume":"152A","author":[{"given":"Ellen","family":"Dwyer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Hyland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peggy","family":"Modaff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard 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