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Novel TRAPPC 2 mutation in a boy with X ‐linked spondylo‐epiphyseal dysplasia tarda
Author(s) -
Adachi Hiroyuki,
Takahashi Ikuko,
Takahashi Tsutomu
Publication year - 2014
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12397
Subject(s) - short stature , exon , genetics , mutation , medicine , gene , dysplasia , biology , pediatrics
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.