Novel TRAPPC2 mutation in a boy with X‐linked spondylo‐epiphyseal dysplasia tarda. Issue 6 (December 2014)

• Record Type: Journal Article
• Authors: Adachi, Hiroyuki; Takahashi, Ikuko; Takahashi, Tsutomu
• Is Part Of: Pediatrics international. Volume 56:Issue 6(2014)
• Page Start: 925
• Page End: 928
• Publication Date: 2014-12
• Subjects: Pediatrics -- Periodicals; 618.92
• DOI: 10.1111/ped.12397
• Languages: English
• ISSNs: 1328-8067

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <p>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 <italic>TRAPPC2</italic>, which is located on chromosome Xp22. In the present study, we identified a novel splice‐site mutation, c.93+1G&gt;A, in <italic>TRAPPC2</italic> 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.</p> </abstract>