TRAPPC2 ; Spondyloepiphyseal dysplasia tarda ; Short stature ; Functional study
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.