Journal of Genetic Medicine  2012;9(1):31-34

doi:10.5734/JGM.2012.9.1.31

A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation.

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

Affiliations

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Keywords

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

Country

Republic 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.