J Genet Med.  2012 Jun;9(1):31-34. 10.5734/JGM.2012.9.1.31.

A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation

Affiliations
  • 1Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. hwyoo@amc.seoul.kr
  • 2Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • 3Department of Radiology, Ajou University Hospital, Suwon, Korea.

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.

Keyword

X-linked skeletal dysplasia; TRAPPC2 gene; Spondyloepiphyseal dysplasia tarda
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