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Brief Communication

Nature Genetics 38, 1248–1250 (1 November 2006) | doi:10.1038/ng1868

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

Bettina Lorenz-Depiereux , Murat Bastepe , Anna Benet-Pag|[egrave]|s , Mustapha Amyere , Janine Wagenstaller , Ursula M|[uuml]|ller-Barth , Klaus Badenhoop , Stephanie M Kaiser , Roger S Rittmaster , Alan H Shlossberg , Jos|[eacute]| L Olivares , C|[eacute]|sar Loris , Feliciano J Ramos , Francis Glorieux , Miikka Vikkula , Harald J|[uuml]|ppner & Tim M Strom

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.