{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T01:34:53Z","timestamp":1793928893860,"version":"4.8.0"},"reference-count":62,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2021,5,11]],"date-time":"2021-05-11T00:00:00Z","timestamp":1620691200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9liuksen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","award":["47085631"],"award-info":[{"award-number":["47085631"]}],"id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Diastrophic dysplasia (DTD) is a rare osteochondrodysplasia characterized by short-limbed short stature and joint dysplasia. DTD is caused by mutations in SLC26A2 and is particularly common in the Finnish population. However, the disease incidence in Finland and clinical features in affected individuals have not been recently explored. This registry-based study aimed to investigate the current incidence of DTD in Finland, characterize the national cohort of pediatric subjects with DTD and review the disease-related literature. Subjects with SLC26A2-related skeletal dysplasia, born between 2000 and 2020, were identified from the Skeletal dysplasia registry and from hospital patient registry and their clinical and molecular data were reviewed. Fourteen subjects were identified. Twelve of them were phenotypically classified as DTD and two, as recessive multiple epiphyseal dysplasia (rMED). From the subjects with available genetic data, 75% (9\/12) were homozygous for the Finnish founder mutation c.-26+2T&gt;C. Two subjects with rMED phenotype were compound heterozygous for p.Arg279Trp and p.Thr512Lys variants. The variable phenotypes in our cohort highlight the wide spectrum of clinical features, ranging from a very severe form of DTD to milder forms of DTD and rMED. The incidence of DTD in Finland has significantly decreased over the past decades, most likely due to increased prenatal diagnostics.<\/jats:p>","DOI":"10.3390\/genes12050714","type":"journal-article","created":{"date-parts":[[2021,5,11]],"date-time":"2021-05-11T02:14:05Z","timestamp":1620699245000},"page":"714","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["SLC26A2-Associated Diastrophic Dysplasia and rMED\u2014Clinical Features in Affected Finnish Children and Review of the Literature"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4702-4280","authenticated-orcid":false,"given":"Helmi","family":"H\u00e4rk\u00f6nen","sequence":"first","affiliation":[{"name":"Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Loid","sequence":"additional","affiliation":[{"name":"Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland"},{"name":"Children\u2019s Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, 00029 Helsinki, Finland"},{"name":"Folkh\u00e4lsan Research Center, 00029 Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4547-001X","authenticated-orcid":false,"given":"Outi","family":"M\u00e4kitie","sequence":"additional","affiliation":[{"name":"Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland"},{"name":"Children\u2019s Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, 00029 Helsinki, Finland"},{"name":"Folkh\u00e4lsan Research Center, 00029 Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,5,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1016\/0092-8674(94)90281-X","article-title":"The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping","volume":"78","author":"Mahtani","year":"1994","journal-title":"Cell"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1093\/hmg\/ddi079","article-title":"A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: Morphological and biochemical characterization of the resulting chondrodysplasia phenotype","volume":"14","author":"Forlino","year":"2005","journal-title":"Hum. 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