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



X-linked dominant hypophosphatemic rickets (XLHOMIM#307800), with an approximate prevalence of 1 in 20,000 in humans, is the most common genetic disorder of renal phosphate wasting. 

Dominant Hypophosphatemic Ricket

Нe main characteristics of hypophosphatemic rickets are defective renal phosphate re-absorption and abnormal bonemineralization. Нe clinical features of this disease include short stature, low extremity deformities, bone and/or joint pain, calculation of ligaments, and dental abnormalities. Нree main types of hypophosphatemic rickets have been reported, X-linked dominant hypophosphatemia (XLH), autosomal dominant hypophosphatemic rickets (ADHR), and autosomal recessive hypophosphatemic rickets (ARHR) which are associated with mutations in the phosphateregulating endopeptidase gene (PHEX), the fibroblast growth factor 23 gene (FGF23), and the dentin matrix acidic phosphoprotein1 gene (DMP1), respectively.  

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