Abstract

Objective The aim of this study was to identify the disease-causing genetic alteration of PHEX gene in a Chinese hypophosphatemic rickets(HR) family.Methods Genomic DNA was extracted from white blood cells by standard methods. All 22 coding exons and their flanking intronic sequences of PHEX gene were PCR-amplified , purified, and subjected to DNA sequencing.Results We identified an acceptor site mutation IVS20-1G ＞T in PHEX gene in the Chinese HR family.Conclusion This study confirms the relationship between the novel splicing mutation IVS20-1G＞T of the PHEX gene and the clinical findings of this HR family. Key words: Hypophosphatemic rickets; PHEX; Acceptor site; Splicing mutation

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