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PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets

Title
PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets
Authors
Song H.-R.Park J.-W.Cho D.-Y.Jae H.Y.Yoon H.-R.Jung S.-C.
Ewha Authors
정성철박주원
SCOPUS Author ID
정성철scopus; 박주원scopus
Issue Date
2007
Journal Title
Journal of Korean Medical Science
ISSN
1011-8934JCR Link
Citation
vol. 22, no. 6, pp. 981 - 986
Indexed
SCI; SCIE; SCOPUS; KCI WOS scopus
Abstract
X-linked hypophosphatemic rickets (XLH) results from mutations in the PHEX gene. Mutational analysis of the PHEX gene in 15 unrelated Korean patients with hypophosphatemic rickets revealed eight mutations, including five novel mutations, in nine patients: two nonsense mutations, two missense mutations, one insertion, and three splicing acceptor/donor site mutations. Of these, c.64G>T, c.1699C>T, c.466_467 insAC, c.1174-1G>A, and c.1768+5G>A were novel mutations. To analyze the correlation between genotype and phenotype, phenotypes were compared between groups with and without a mutation, in terms of mutation location, mutation type, and sex. Skeletal disease tended to be more severe in the group with a mutation in the C-terminal half of the PHEX gene, but no genotype-phenotype correlation was detected in other comparisons. Further extensive studies of the PHEX gene mutations and analyses of the genotype-phenotype relationships are required to understand PHEX function and the pathogenesis of XLH. Copyright © The Korean Academy of Medical Sciences.
DOI
10.3346/jkms.2007.22.6.981
Appears in Collections:
의과대학 > 의학과 > Journal papers
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