DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis
B Lorenz-Depiereux, M Bastepe, A Benet-Pagès… - Nature …, 2006 - nature.com
B Lorenz-Depiereux, M Bastepe, A Benet-Pagès, M Amyere, J Wagenstaller, U Müller-Barth…
Nature genetics, 2006•nature.comHypophosphatemia 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 …
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 …
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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