DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.
Nat Genet
; 38(11): 1248-50, 2006 Nov.
Article
en En
| MEDLINE
| ID: mdl-17033625
ABSTRACT
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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Fosfatos
/
Fosfoproteínas
/
Matriz Ósea
/
Proteínas de la Matriz Extracelular
/
Hipofosfatemia
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Adult
/
Child
/
Humans
/
Infant
Idioma:
En
Año:
2006
Tipo del documento:
Article