Autosomal Recessive Multiple Epiphyseal Dysplasia in a Korean Girl Caused by Novel Compound Heterozygous Mutations in the DTDST (SLC26A2) Gene.
10.3346/jkms.2010.25.7.1105
- Author:
Tae Joon CHO
1
;
Ok Hwa KIM
;
Hye Ran LEE
;
Sung Jin SHIN
;
Won Joon YOO
;
Woong Yang PARK
;
Sung Sup PARK
;
Sung Im CHO
;
In Ho CHOI
Author Information
1. Department of Orthopaedic Surgery, Seoul National University Children's Hospital, Seoul, Korea. tjcho@snu.ac.kr
- Publication Type:Case Report ; Research Support, Non-U.S. Gov't
- Keywords:
Osteochondrodysplasias;
Diastrophic Dysplasia Sulfate Transporter
- MeSH:
Animals;
Anion Transport Proteins/*genetics;
Asian Continental Ancestry Group/genetics;
Child;
DNA Mutational Analysis;
Female;
*Genes, Recessive;
Genotype;
*Heterozygote;
Humans;
Korea;
*Mutation;
Osteochondrodysplasias/*genetics;
Phenotype
- From:Journal of Korean Medical Science
2010;25(7):1105-1108
- CountryRepublic of Korea
- Language:English
-
Abstract:
Multiple epiphyseal dysplasia is caused by heterogenous genotypes involving more than six genes. Recessive mutations in the DTDST gene cause a phenotype of recessive multiple epiphyseal dysplasia (rMED). The authors report a 9-yr old Korean girl with the rMED phenotype having novel compound heterozygous mutations in the DTDST gene, which were inherited from both parents. This is the first Korean rMED case attributed to DTDST mutations, and expands the spectrum of diseases caused by DTDST mutations.
