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  • Title: Novel TRAPPC2 mutation in a boy with X-linked spondylo-epiphyseal dysplasia tarda.
    Author: Adachi H, Takahashi I, Takahashi T.
    Journal: Pediatr Int; 2014 Dec; 56(6):925-928. PubMed ID: 25521980.
    Abstract:
    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 TRAPPC2, which is located on chromosome Xp22. In the present study, we identified a novel splice-site mutation, c.93+1G>A, in TRAPPC2 in a 9-year-old Japanese 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.
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