Background: X-linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets and autosomal recessive hypophosphatemic rickets make up a group of renal phosphate wasting disorders with common clinical and biochemical characteristics. These three types of rickets are related to mutations in PHEX, FGF23 and dentin matrix protein 1 (DMP1), respectively.
Objective: The objective of the study was to evaluate the frequency of mutations that occur in these three genes associated with hypophosphatemic rickets.
Patients and methods: In this study, we sequenced these genes in 76 members of 46 kindreds from a large hypophosphatemic rickets cohort.
Results: Forty-two individuals from 27 kindreds were found to have mutations in PHEX; 16 of which were novel. One subject had an FGF23 mutation. No individuals were found to have mutations in DMP1 consistent with the presence of recessive hypophosphatemic rickets.
Conclusions: Our data highlight the wide spectrum of genetic variation that can be seen in PHEX, FGF23 and DMP1 when screening a large cohort with hypophosphatemic rickets.
© 2011 Blackwell Publishing Ltd.