TY - JOUR
T1 - PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets
AU - Song, Hae Ryong
AU - Park, Joo Won
AU - Cho, Dae Yeon
AU - Jae, Hyuk Yang
AU - Yoon, Hye Ran
AU - Jung, Sung Chul
PY - 2007/12
Y1 - 2007/12
N2 - 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.
AB - 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.
KW - Genotype
KW - Hypophosphatemic rickets, X-linked dominant
KW - Mutation
KW - PHEX
KW - Phenotype
UR - http://www.scopus.com/inward/record.url?scp=38349194051&partnerID=8YFLogxK
U2 - 10.3346/jkms.2007.22.6.981
DO - 10.3346/jkms.2007.22.6.981
M3 - Article
C2 - 18162710
AN - SCOPUS:38349194051
SN - 1011-8934
VL - 22
SP - 981
EP - 986
JO - Journal of Korean Medical Science
JF - Journal of Korean Medical Science
IS - 6
ER -