저신장 환아에서 발견한 TRAPPC2 유전자 돌연변이의 기능 검사를 통한 해석 1예 보고

Abstract

Spondyloepiphyseal dysplasia tarda (SEDT) is a rare, X-chromosome-linked recessive osteochondrodysplasia caused by mutations in the TRAPPC2 gene. Molecular methods are helpful for diagnosis because short stature and degenerative joint diseases develop in late childhood. We report a case of interpreting the pathogenicity of TRAPPC2 gene mutation, which includes intronic region deletion, using a functional study. The conflicting results of mRNA sequencing and the automated program predicting splice mutations emphasize the importance of functional studies.