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Nat Genet. 2006 Nov;38(11):1248-50. Epub 2006 Oct 8.

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

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  • 1Institute of Human Genetics, GSF National Research Center for Environment and Health, 85764 Munich-Neuherberg, Germany.

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.

Comment in

  • Bone talk. [Nat Genet. 2006]
  • More on the bone-kidney axis--lessons from hypophosphataemia. [Nephrol Dial Transplant. 2007]
PMID:
17033625
[PubMed - indexed for MEDLINE]
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