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KMID : 1189120120090010031
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대한의학유전학회지
2012 Volume.9 No. 1 p.31 ~ p.34
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A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation
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Kim Hyun-Jin
Lee Beom-Hee
Kim Yoo-Mi
Kim Gu-Hwan
Kim Ok-Hwa
Yoo Han-Wook
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Abstract
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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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KEYWORD
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X-linked skeletal dysplasia, TRAPPC2 gene, Spondyloepiphyseal dysplasia tarda
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Listed journal information
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