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Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23
Ist Teil von
Nature genetics, 2000-11, Vol.26 (3), p.345-348
Ort / Verlag
London: Nature Publishing Group
Erscheinungsjahr
2000
Quelle
MEDLINE
Beschreibungen/Notizen
Proper serum phosphate concentrations are maintained by a complex and poorly
understood process. Identification of genes responsible for inherited disorders
involving disturbances in phosphate homeostasis may provide insight into the
pathways that regulate phosphate balance. Several hereditary disorders of
isolated phosphate wasting have been described, including X-linked hypophosphataemic
rickets (XLH), hypophosphataemic bone disease
(HBD), hereditary hypophosphataemic rickets with hypercalciuria
(HHRH) and autosomal dominant hypophosphataemic rickets
(ADHR). Inactivating mutations of the gene PHEX, encoding a member
of the neutral endopeptidase family of proteins, are responsible for XLH (refs 6,7). ADHR (MIM 193100) is
characterized by low serum phosphorus concentrations, rickets, osteomalacia,
lower extremity deformities, short stature, bone pain and dental abscesses. Here we describe a positional cloning approach used to identify
the ADHR gene which included the annotation of 37 genes within 4 Mb of genomic
sequence. We identified missense mutations in a gene encoding a new member
of the fibroblast growth factor (FGF) family, FGF23. These mutations
in patients with ADHR represent the first mutations found in a human FGF gene.