台灣地區罹患低磷酸鹽血性佝僂症家族之PHEX基因突變研究
Date Issued
2005
Date
2005
Author(s)
蔡文友
DOI
932314B002135
Abstract
Hypophosphatemic rickets consists of a group of disorders characterized by a defect in
renal phosphate transport resulting in phosphate wasting and hypophosphatemia. Eighteen
unrelated Taiwanese patients with hypophosphatemic rickets and their families were enrolled
for the mutational analysis of their PHEX gene in this study. Mutations of PHEX gene was
detected in 13 out of 18 patients (72%) with hypophosphatemic rickets. These mutations
include 5 nonsense mutations, 4 deletions, 2 insertions and 2 missense mutations. The
majority (83%) of these mutations are predicted to result in truncation of the PHEX protein
product and 69% of these mutations have arisen de novo. Our data revealed that X-linked
hypophosphatemic rickets due to mutations of PHEX gene is the most common cause of
hypophosphatemic rickets in Taiwan and most of such mutations of PHEX gene occurred de
novo.
Publisher
臺北市：國立臺灣大學醫學院小兒科
Type
report
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