PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets.
10.3346/jkms.2007.22.6.981
- Author:
Hae Ryong SONG
1
;
Joo Won PARK
;
Dae Yeon CHO
;
Jae Hyuk YANG
;
Hye Ran YOON
;
Sung Chul JUNG
Author Information
1. Department of Orthopedic Surgery, Rare Diseases Institute, Korea University Guro Hospital, Seoul, Korea.
- Publication Type:Original Article
- Keywords:
Hypophosphatemic Rickets, X-linked Dominant;
PHEX;
Mutation;
Genotype;
Phenotype
- MeSH:
Adolescent;
Adult;
Child;
Child, Preschool;
Female;
Gene Dosage;
Genotype;
Humans;
Hypophosphatemic Rickets, X-Linked Dominant/*genetics;
Infant;
Male;
Middle Aged;
*Mutation;
PHEX Phosphate Regulating Neutral Endopeptidase/*genetics;
Phenotype
- From:Journal of Korean Medical Science
2007;22(6):981-986
- CountryRepublic of Korea
- Language:English
-
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.
