DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis
(2006) Nature Genetics — Vol. 38, n° 11, p. 1248-1250 (2006)
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- Abstract
- Hypophosphatemia is a genetically heterogeneous disease. Here, we mapped an autosomal recessive form (designated ARHP) to chromosome 4q21 and identified homozygous mutations in DMP1 (dentin matrix protein 1), which encodes a non-collagenous bone matrix protein expressed in osteoblasts and osteocytes. Intact plasma levels of the phosphaturic protein FGF23 were clearly elevated in two of four affected individuals, providing a possible explanation for the phosphaturia and inappropriately normal 1,25(OH)2D levels and suggesting that DMP1 may regulate FGF23 expression.
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Lorenz-Depiereux, B., Bastepe, M., Benet-Pagès, A., Amyere, M., Wagenstaller, J., Müller-Barth, U., Badenhoop, K., Kaiser, S. M., Rittmaster, R. S., Shlossberg, A. H., Olivares, J. L., Loris, C., Ramos, F. J., Glorieux, F., Vikkula, M., Jüppner, H., & Strom, T. M. (2006). DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nature Genetics, 38(11), 1248-1250. https://doi.org/10.1038/ng1868 (Original work published 2006)