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Nature Research, Nature Genetics, 11(38), p. 1248-1250, 2006

DOI: 10.1038/ng1868

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DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis

Journal article published in 2006 by Bettina Lorenz-Depiereux, Murat Bastepe ORCID, Anna Benet-Pagès, Mustapha Amyere, Janine Wagenstaller, Ursula Müller-Barth, Klaus Badenhoop, Stephanie M. Kaiser, Roger S. Rittmaster, Alan H. Shlossberg, José L. Olivares, César Loris, Feliciano J. Ramos ORCID, Francis Glorieux, Miikka Vikkula and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.