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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 osteocy...

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Source

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Identifiers

PMID: 17033625
DOI: 10.1038/ng1868
PMCID: PMC5942547

Genes

DMP1
FGF23

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17033625-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.PMID 17033625Read ↗

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First report in Argentina of a pathogenic DMP1 variant associated with autosomal recessive hypophosphatemic rickets.Semantic proximity Read ↗

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