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

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Lorenz-Depiereux, Bettina Bastepe, Murat Benet-Pagès, Anna Amyere, Mustapha [UCL] Wagenstaller, Janine Vikkula, Miikka [UCL] Strom, Tim M.

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.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès libre
Publication date 2006
Journal information "Nature Genetics" - Vol. 38, no. 11, p. 1248-1250 (2006)
Peer reviewed yes
Publisher Nature Publishing Group (New York)
issn 1061-4036
e-issn 1546-1718
Publication status Publié
Affiliations UCL - MD/BICL - Département de biochimie et de biologie cellulaire
UCL - (SLuc) Centre de malformations vasculaires congénitales
UCL - (SLuc) Centre de génétique médicale UCL
MESH Subject Adolescent ; Adult ; Bone Matrix - metabolism ; Child ; Extracellular Matrix Proteins - genetics - metabolism - physiology ; Fibroblast Growth Factors - genetics - metabolism ; Homeostasis ; Humans ; Hypophosphatemia - genetics ; Infant ; Mutation ; PHEX Phosphate Regulating Neutral Endopeptidase - genetics - metabolism ; Pedigree ; Phosphates - metabolism ; Phosphoproteins - genetics - metabolism - physiology
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Bibliographic reference Lorenz-Depiereux, Bettina ; Bastepe, Murat ; Benet-Pagès, Anna ; Amyere, Mustapha ; Wagenstaller, Janine ; et. al. DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. In: Nature Genetics, Vol. 38, no. 11, p. 1248-1250 (2006)
Permanent URL http://hdl.handle.net/2078.1/27097