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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
- 정성철; 박주원
- SCOPUS Author ID
- 정성철; 박주원
- Issue Date
- 2007
- Journal Title
- Journal of Korean Medical Science
- ISSN
- 1011-8934
- Citation
- Journal of Korean Medical Science vol. 22, no. 6, pp. 981 - 986
- Indexed
- SCI; SCIE; SCOPUS; KCI
- Document Type
- Article
- 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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