{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:43:04Z","timestamp":1762004584709,"version":"3.37.3"},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,4,1]],"date-time":"2014-04-01T00:00:00Z","timestamp":1396310400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002341","name":"Academy of Finland","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Folkh\u00ef\u00bf\u00bdlsan Research Foundation"},{"name":"Sigrid Juselius Foundation"},{"DOI":"10.13039\/501100004359","name":"Swedish Research Council","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"crossref"}]},{"name":"The Swedish Childhood Cancer Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,3]]},"abstract":"Abstract<\/jats:title>Diastrophic dysplasia (DTD<\/jats:styled-content>) is an autosomal recessive skeletal dysplasia caused by SLC26A2<\/jats:styled-content><\/jats:italic> mutations. Clinical features include short stature, joint contractures, spinal deformities, and cleft palate. SLC26A2<\/jats:styled-content><\/jats:italic> mutations also result in other skeletal dysplasias, including the milder recessive multiple epiphyseal dysplasia (rMED<\/jats:styled-content>). DTD<\/jats:styled-content> is overrepresented in Finland and we speculated that this may have influenced the prevalence and spectrum of SLC26A2<\/jats:styled-content><\/jats:italic>\u2010related skeletal conditions also in Sweden. We reviewed the patient registry at Department of Clinical Genetics, Karolinska University Hospital, Stockholm to identify subjects with SLC26A2<\/jats:styled-content><\/jats:italic> mutations. Seven patients from six families were identified; clinical data were available for six patients. All but one patient had one or two copies of the Finnish SLC26A2<\/jats:styled-content><\/jats:italic> founder mutation IVS1<\/jats:styled-content>+2T<\/jats:styled-content>>C. Arg279Trp<\/jats:styled-content> mutation was present in compound heterozygous form in five patients with phenotypes consistent with rMED<\/jats:styled-content>. Their heights ranged from \u22122.6 to \u22121.4 standard deviation units below normal mean and radiographic features included generalised epiphyseal dysplasia and double\u2010layered patellae. Two rMED<\/jats:styled-content> patients had hypoplastic C2<\/jats:styled-content> and cervical kyphosis, a severe manifestation previously described only in DTD<\/jats:styled-content>. Our study confirms a high prevalence of rMED<\/jats:styled-content> in Sweden and expands the phenotypic manifestations of rMED<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/cge.12371","type":"journal-article","created":{"date-parts":[[2014,3,5]],"date-time":"2014-03-05T12:56:41Z","timestamp":1394024201000},"page":"273-278","source":"Crossref","is-referenced-by-count":12,"title":["SLC26A2<\/scp><\/i> disease spectrum in Sweden\u00a0\u2013\u00a0high frequency of recessive multiple epiphyseal dysplasia (rMED<\/scp>)"],"prefix":"10.1111","volume":"87","author":[{"given":"O.","family":"M\u00e4kitie","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden"},{"name":"Department of Clinical Genetics Karolinska University Hospital Stockholm Sweden"},{"name":"Folkh\u00e4lsan Institute of Genetics Helsinki 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