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A Novel PHEX Mutation in a Korean Patient with Sporadic Hypophosphatemic Rickets

Address correspondence to Kyung-A Lee, M.D., Ph.D., Department of Laboratory Medicine, Yonsei University College of Medicine, 146-9 Dogokdong, Kangnamgu 146-92, Seoul, Korea; tel 82 2 2019 3531; fax 82 2 2019 4822; e-mail: KAL1119{at}yuhs.ac.

Mutations including nonsense mutations, missense mutations, splicing-site mutations, insertions, and deletions in phosphate regulating genes on the X-chromosome (PHEX) are known to be responsible for X-linked hypophosphatemic rickets. The PHEX gene encodes an endopeptidase that is involved in phosphate regulation. Herein we present a female patient with sporadic hypophosphatemic rickets harboring a novel deletion mutation (c.1586_1586+1delAG; p.Glu529GlyfsX41) at exon 14 and intron 14 junction, which caused a premature termination at codon 569 and possibly produced a truncated PHEX protein. The laboratory and radiologic findings of the patient are reviewed to correlate the impact of the two-base deletion mutations at the exon-intron junction.

Keywords: phosphate regulating gene, PHEX mutations, X-chromosome, hypophosphatemic rickets