Skip to main content
Journal cover image

A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.

Publication ,  Journal Article
Econs, MJ; Friedman, NE; Rowe, PS; Speer, MC; Francis, F; Strom, TM; Oudet, C; Smith, JA; Ninomiya, JT; Lee, BE; Bergen, H
Published in: J Clin Endocrinol Metab
October 1998

Previous investigators described a kindred with an X-linked dominant form of phosphate wasting in which affected children did not have radiographic evidence of rickets, whereas older individuals were progressively disabled by severe bowing. They proposed that this kindred suffered from a distinct disorder that they referred to as adult-onset vitamin D-resistant hypophosphatemic osteomalacia (AVDRR). We recently identified a gene, PHEX, that is responsible for the disorder X-linked hypophosphatemic rickets. To determine whether AVDRR is a distinct form of phosphate wasting, we searched for PHEX mutations in affected members of the original AVDRR kindred. We found that affected individuals have a missense mutation in PHEX exon 16 that results in an amino acid change from leucine to proline in residue 555. Clinical evaluation of individuals from this family indicates that some of these individuals display classic features of X-linked hypophosphatemic rickets, and we were unable to verify progressive bowing in adults. In light of the variability in the clinical spectrum of X-linked hypophosphatemic rickets and the presence of a PHEX mutation in affected members of this kindred, we conclude that there is only one form of X-linked dominant phosphate wasting.

Duke Scholars

Published In

J Clin Endocrinol Metab

DOI

ISSN

0021-972X

Publication Date

October 1998

Volume

83

Issue

10

Start / End Page

3459 / 3462

Location

United States

Related Subject Headings

  • X Chromosome
  • Vitamin D
  • Rickets
  • Radiography
  • Proteins
  • Pedigree
  • PHEX Phosphate Regulating Neutral Endopeptidase
  • Osteomalacia
  • Mutation
  • Male
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Econs, M. J., Friedman, N. E., Rowe, P. S., Speer, M. C., Francis, F., Strom, T. M., … Bergen, H. (1998). A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets. J Clin Endocrinol Metab, 83(10), 3459–3462. https://doi.org/10.1210/jcem.83.10.5167
Econs, M. J., N. E. Friedman, P. S. Rowe, M. C. Speer, F. Francis, T. M. Strom, C. Oudet, et al. “A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.J Clin Endocrinol Metab 83, no. 10 (October 1998): 3459–62. https://doi.org/10.1210/jcem.83.10.5167.
Econs, M. J., et al. “A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.J Clin Endocrinol Metab, vol. 83, no. 10, Oct. 1998, pp. 3459–62. Pubmed, doi:10.1210/jcem.83.10.5167.
Econs MJ, Friedman NE, Rowe PS, Speer MC, Francis F, Strom TM, Oudet C, Smith JA, Ninomiya JT, Lee BE, Bergen H. A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets. J Clin Endocrinol Metab. 1998 Oct;83(10):3459–3462.
Journal cover image

Published In

J Clin Endocrinol Metab

DOI

ISSN

0021-972X

Publication Date

October 1998

Volume

83

Issue

10

Start / End Page

3459 / 3462

Location

United States

Related Subject Headings

  • X Chromosome
  • Vitamin D
  • Rickets
  • Radiography
  • Proteins
  • Pedigree
  • PHEX Phosphate Regulating Neutral Endopeptidase
  • Osteomalacia
  • Mutation
  • Male