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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