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Mutation Survey of the PHEX Gene and Oral Manifestation in a Chinese Family with X-linked Dominant Hypophosphatemic Ricket

Wang Yuanyuan,Chen Jie,Wu Nan,Zhao Yuming,Ge Lihong,Qin Man*

Objective: X-linked dominant hypophosphatemic rickets is the most common genetic disorder of renal phosphate wasting with an approximate prevalence of 1 in 20,000 in humans. Until now, no more than 15 mutations in the PHEX gene have been reported in Chinese patients with familial XLH among the all the 338 PHEX mutations. The aim of this study is describe the oral manifestation of a Chinese XLH family, analyze the dentin structure alteration and gene mutation.
Methods: In this XLH family, the oral manifestation was described by panoramic tomograph and oral photographs, dentin structure alteration was studied by both tooth section and 3D morphology measurement laser microscope, the gene mutation was studied by PCR technique.
Results: Pulp infection and teeth loss were facilitated in XLH patients due to the anatomy change, hypophosphatemic dentin alterations in deciduous teeth displayed as large interglobular spaces between the unmerged calcospherites. A nonsense gene mutation c.1645 (p.Arg549X) was detected in this study. Conclusions: We found a PHEX gene mutation in this XLH Chinese family. Our findings are useful for understanding the oral manifestation, dentin alteration and genetic basis of Chinese patients with XLH.