Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation

  • Kim, Hyun-Jin (Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Lee, Beom-Hee (Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Kim, Yoo-Mi (Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Kim, Gu-Hwan (Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Kim, Ok-Hwa (Department of Radiology, Ajou University Hospital) ;
  • Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine)
  • Received : 2012.05.10
  • Accepted : 2012.06.22
  • Published : 2012.06.30
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Abstract

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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References

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