SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature
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Härkönen , H , Loid , P & Mäkitie , O 2021 , ' SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature ' , Genes , vol. 12 , no. 5 , 714 . https://doi.org/10.3390/genes12050714
| Title: | SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature |
| Author: | Härkönen, Helmi; Loid, Petra; Mäkitie, Outi |
| Contributor organization: | CAMM - Research Program for Clinical and Molecular Metabolism Research Programs Unit Faculty of Medicine University of Helsinki Clinicum HUS Children and Adolescents Children's Hospital Helsinki University Hospital Area Lastentautien yksikkö |
| Date: | 2021-05 |
| Language: | eng |
| Number of pages: | 12 |
| Belongs to series: | Genes |
| ISSN: | 2073-4425 |
| DOI: | https://doi.org/10.3390/genes12050714 |
| URI: | http://hdl.handle.net/10138/331805 |
| Abstract: | 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>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. |
| Subject: |
diastrophic dysplasia
multiple epiphyseal dysplasia phenotype skeletal dysplasia MULTIPLE EPIPHYSEAL DYSPLASIA COMPOUND HETEROZYGOUS MUTATIONS TRANSPORTER DTDST GENE SULFATE TRANSPORTER INTERMEDIATE PHENOTYPE MOUSE MODEL SKELETAL PHENOTYPE SLC26A2 DIAGNOSIS PATELLA 1184 Genetics, developmental biology, physiology |
| Peer reviewed: | Yes |
| Rights: | cc_by |
| Usage restriction: | openAccess |
| Self-archived version: | publishedVersion |
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