Novel TRAPPC 2 mutation in a boy with X ‐linked spondylo‐epiphyseal dysplasia tarda

X ‐linked spondylo‐epiphyseal dysplasia tarda ( SEDT ) is an X ‐linked recessive, late‐onset, progressive skeletal disorder characterized by mild‐to‐moderate short‐trunked short stature. X ‐linked SEDT is caused by mutations in the gene TRAPPC 2 , which is located on chromosome X p22. In the present study, we identified a novel splice‐site mutation, c.93+1 G > A , in TRAPPC 2 in a 9‐year‐old J apanese patient who had X ‐linked SEDT and no family history of the disease. On reverse transcription–polymerase chain reaction, the mutation resulted in a 4 bp frame‐shift insertion between exon 3 and exon 4. The present case highlights the importance of genetic analysis for confirmatory diagnosis of X ‐linked SEDT , especially in cases without a positive family history.