• J. Korean Med. Sci. · Jul 2010

    Case Reports

    Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.

    • Tae-Joon Cho, Ok-Hwa Kim, Hye-Ran Lee, Sung Jin Shin, Won Joon Yoo, Woong Yang Park, Sung Sup Park, Sung Im Cho, and In Ho Choi.
    • Department of Orthopaedic Surgery, Seoul National University Children's Hospital, Seoul, Korea. tjcho@snu.ac.kr
    • J. Korean Med. Sci. 2010 Jul 1; 25 (7): 110511081105-8.

    AbstractMultiple 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.

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