Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets
Article first published online: 8 FEB 2011
© 2011 Blackwell Publishing Ltd
Volume 74, Issue 3, pages 312–318, March 2011
How to Cite
Ruppe, M. D., Brosnan, P. G., Au, K. S., Tran, P. X., Dominguez, B. W. and Northrup, H. (2011), Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets. Clinical Endocrinology, 74: 312–318. doi: 10.1111/j.1365-2265.2010.03919.x
- Issue published online: 8 FEB 2011
- Article first published online: 8 FEB 2011
- Accepted manuscript online: 2 NOV 2010 10:54AM EST
- (Received 18 May 2010; return for revision 5 June 2010; finally revised 8 June 2010; accepted 24 June 2010)
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.