title: Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.
abstract: 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.
authors.affiliation: Department of Orthopaedic Surgery, Seoul National University Children's Hospital, Seoul, Korea. tjcho@snu.ac.kr
authors.forename: Tae-Joon
authors.initials: TJ
authors.lastname: Cho
authors.forename: Ok-Hwa
authors.initials: OH
authors.lastname: Kim
authors.forename: Hye-Ran
authors.initials: HR
authors.lastname: Lee
authors.forename: Sung Jin
authors.initials: SJ
authors.lastname: Shin
authors.forename: Won Joon
authors.initials: WJ
authors.lastname: Yoo
authors.forename: Woong Yang
authors.initials: WY
authors.lastname: Park
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
authors.forename: Sung Im
authors.initials: SI
authors.lastname: Cho
authors.forename: In Ho
authors.initials: IH
authors.lastname: Choi
mesh_terms: 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
chemical_list: D027321:Anion Transport Proteins; C089651:SLC26A2 protein, human; D000076988:Sulfate Transporters