Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.
Multiple epiphyseal dysplasia is caused by heterogeneous 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.
Cho
Tae-Joon
TJ
Department of Orthopaedic Surgery, Seoul National University Children's Hospital, Seoul, Korea. tjcho@snu.ac.kr
Kim
Ok-Hwa
OH
Lee
Hye-Ran
HR
Shin
Sung Jin
SJ
Yoo
Won Joon
WJ
Park
Woong Yang
WY
Park
Sung Sup
SS
Cho
Sung Im
SI
Choi
In Ho
IH
D000818:Animals; D027321:Anion Transport Proteins / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007723:Korea; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics*; D010641:Phenotype; D000076988:Sulfate Transporters
D027321:Anion Transport Proteins; C089651:SLC26A2 protein, human; D000076988:Sulfate Transporters