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Article

SLC26A2-Associated Diastrophic Dysplasia and rMED—Clinical Features in Affected Finnish Children and Review of the Literature

by 1, 1,2,3 and 1,2,3,*
1
Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland
2
Children’s Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, 00029 Helsinki, Finland
3
Folkhälsan Research Center, 00029 Helsinki, Finland
*
Author to whom correspondence should be addressed.
Academic Editor: Susanna Balcells Comas
Received: 8 April 2021 / Revised: 6 May 2021 / Accepted: 7 May 2021 / Published: 11 May 2021
(This article belongs to the Special Issue Genetic Disorders of Bone)
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. View Full-Text
Keywords: SLC26A2; diastrophic dysplasia; multiple epiphyseal dysplasia; phenotype; skeletal dysplasia SLC26A2; diastrophic dysplasia; multiple epiphyseal dysplasia; phenotype; skeletal dysplasia
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MDPI and ACS Style

Härkönen, H.; Loid, P.; Mäkitie, O. SLC26A2-Associated Diastrophic Dysplasia and rMED—Clinical Features in Affected Finnish Children and Review of the Literature. Genes 2021, 12, 714. https://0-doi-org.brum.beds.ac.uk/10.3390/genes12050714

AMA Style

Härkönen H, Loid P, Mäkitie O. SLC26A2-Associated Diastrophic Dysplasia and rMED—Clinical Features in Affected Finnish Children and Review of the Literature. Genes. 2021; 12(5):714. https://0-doi-org.brum.beds.ac.uk/10.3390/genes12050714

Chicago/Turabian Style

Härkönen, Helmi, Petra Loid, and Outi Mäkitie. 2021. "SLC26A2-Associated Diastrophic Dysplasia and rMED—Clinical Features in Affected Finnish Children and Review of the Literature" Genes 12, no. 5: 714. https://0-doi-org.brum.beds.ac.uk/10.3390/genes12050714

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