Article
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.
Nature genetics - 1 Nov 2006
Lorenz-Depiereux Bettina, Bastepe Murat, Benet-Pagès Anna, Amyere Mustapha, Wagenstaller Janine, Müller-Barth Ursula, Badenhoop Klaus, Kaiser Stephanie M, Rittmaster Roger S, Shlossberg Alan H, Olivares José L, Loris César, Ramos Feliciano J, Glorieux Francis, Vikkula Miikka, Jüppner Harald, Strom Tim M
Abstract excerpt
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,...
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