A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation
Kim, HJ; Lee, BH; Kim, YM; Kim, GH; Kim, OH; Yoo, HW
Journal of genetic medicine, 9(1):31-34, 2012
Journal of genetic medicine; 대한의학유전학회지
Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked skeletal dysplasia. Patients show disproportionate short stature with short trunk and barrel-shaped chest, which usually become pronounced in late childhood. The radiologic findings are characterized by narrow intervertebral disc spaces and moderate epiphyseal dysplasia of long bones. Here we report a case of SEDT with a novel frameshift mutation in TRAPPC2, the disease-causing gene of SEDT. This is the first Korean report with SEDT confirmed by genetic testing.
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