DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.
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ABSTRACT:
SUBMITTER: Lorenz-Depiereux B
PROVIDER: S-EPMC5942547 | biostudies-literature | 2006 Nov
REPOSITORIES: biostudies-literature
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DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.
Lorenz-Depiereux Bettina B Bastepe Murat M Benet-Pagès Anna A Amyere Mustapha M Wagenstaller Janine J Müller-Barth Ursula U Badenhoop Klaus K Kaiser Stephanie M SM Rittmaster Roger S RS Shlossberg Alan H AH Olivares José L JL Loris César C Ramos Feliciano J FJ Glorieux Francis F Vikkula Miikka M Jüppner Harald H Strom Tim M TM
Nature genetics 20061008 11
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 1,2 ...[more]
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