DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis
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DOI：
10.1038/ng1868
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发表时间：
2006-11-01
期刊：
影响因子：
30.8
通讯作者：
Strom, Tim M.
中科院分区：
文献类型：
--
作者：
Lorenz-Depiereux, Bettina;Bastepe, Murat;Strom, Tim M.
低磷血症是一种遗传异质性疾病。在这里，我们将一种常染色体隐性形式（指定为ARHP）定位到染色体4q21，并鉴定了编码成骨细胞和骨细胞中表达的非胶原性骨基质蛋白的DMP 1（牙本质基质蛋白1）的纯合突变。磷酸尿蛋白FGF 23的完整血浆水平在四个受影响的个体中的两个中明显升高，为磷酸尿和不适当的正常1，25（OH）2D水平提供了可能的解释，并表明DMP1可能调节FGF 23的表达。
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.