A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation.

Author: Hyun Jin KIM ¹ ; Beom Hee LEE ; Yoo Mi KIM ; Gu Hwan KIM ; Ok Hwa KIM ; Han Wook YOO
Author Information

1. Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. hwyoo@amc.seoul.kr
Publication Type:Case Report
Keywords: X-linked skeletal dysplasia; TRAPPC2 gene; Spondyloepiphyseal dysplasia tarda
MeSH: Frameshift Mutation; Genetic Testing; Humans; Intervertebral Disc; Osteochondrodysplasias; Thorax
From:Journal of Genetic Medicine 2012;9(1):31-34
CountryRepublic of Korea
Language:English
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.