title: PHEX gene mutations and genotype-phenotype analysis of Korean patients with hypophosphatemic rickets.
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.
authors.affiliation: Department of Orthopedic Surgery, Rare Diseases Institute, Korea University Guro Hospital, Seoul, Korea.
authors.forename: Hae Ryong
authors.initials: HR
authors.lastname: Song
authors.forename: Joo Won
authors.initials: JW
authors.lastname: Park
authors.forename: Dae Yeon
authors.initials: DY
authors.lastname: Cho
authors.forename: Jae Hyuk
authors.initials: JH
authors.lastname: Yang
authors.forename: Hye Ran
authors.initials: HR
authors.lastname: Yoon
authors.forename: Sung Chul
authors.initials: SC
authors.lastname: Jung
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D053098:Familial Hypophosphatemic Rickets / Q000235:genetics*; D005260:Female; D018628:Gene Dosage; D040181:Genetic Diseases, X-Linked; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D053402:PHEX Phosphate Regulating Neutral Endopeptidase / Q000235:genetics*; D010641:Phenotype
chemical_list: D053402:PHEX Phosphate Regulating Neutral Endopeptidase