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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

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

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)(2)D levels and suggesting that DMP1 may regulate FGF23 expression.[1]

References

  1. DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Lorenz-Depiereux, B., Bastepe, M., Benet-Pag??s, A., Amyere, M., Wagenstaller, J., M??ller-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., J??ppner, H., Strom, T.M. Nat. Genet. (2006) [Pubmed]
 
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