PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets

• DOI: 10.3346/jkms.2007.22.6.981
• Publication Date: 2008-08-05T06:57:46Z
• Authors: Hae-Ryong Song; Joo-Won Park; Dae-Yeon Cho; Jae Hyuk Yang; Hye-Ran Yoon; Sung-Chul Jung
• Keywords: PHEX; Hypophosphatemic Rickets; Nonsense mutation; Genotype-phenotype distinction

X-linked hypophosphatemic rickets (XLH) results from mutations in the PHEX gene. Mutational analysis of gene 15 unrelated Korean patients with revealed eight mutations, including five novel nine patients: two nonsense missense 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, c.1768+5G>A were To analyze correlation between genotype phenotype, phenotypes compared groups without a mutation, terms mutation location, type, sex. Skeletal disease tended to be more severe group C-terminal half gene, but no genotype-phenotype was detected other comparisons. Further extensive studies analyses relationships are required understand function pathogenesis XLH.