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. 2011 Mar;74(3):312-8.
doi: 10.1111/j.1365-2265.2010.03919.x.

Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets

Mary D Ruppe  1 , Patrick G Brosnan, Kit Sing Au, Phong X Tran, Barbara W Dominguez, Hope Northrup
Affiliations

Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets

Mary D Ruppe et al. Clin Endocrinol (Oxf). 2011 Mar.

Abstract

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.

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Conflict of interest statement

Competing interests/financial disclosure

None to declare.

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