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A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.
- Source :
-
The New England journal of medicine [N Engl J Med] 2010 Mar 25; Vol. 362 (12), pp. 1102-9. - Publication Year :
- 2010
-
Abstract
- We describe two siblings from a consanguineous family with autosomal recessive Fanconi's syndrome and hypophosphatemic rickets. Genetic analysis revealed a homozygous in-frame duplication of 21 bp in SLC34A1, which encodes the renal sodium-inorganic phosphate cotransporter NaPi-IIa, as the causative mutation. Functional studies in Xenopus laevis oocytes and in opossum kidney cells indicated complete loss of function of the mutant NaPi-IIa, resulting from failure of the transporter to reach the plasma membrane. These findings show that disruption of the human NaPi-IIa profoundly impairs overall renal phosphate reabsorption and proximal-tubule function and provide evidence of the critical role of NaPi-IIa in human renal phosphate handling.<br /> (2010 Massachusetts Medical Society)
- Subjects :
- Adult
Animals
Calcitriol blood
Cells, Cultured
Consanguinity
DNA Mutational Analysis
Female
Genes, Recessive
Humans
Kidney cytology
Kidney metabolism
Male
Mutation
Oocytes metabolism
Opossums
Pedigree
Siblings
Sodium-Phosphate Cotransporter Proteins, Type IIa metabolism
Xenopus laevis
Familial Hypophosphatemic Rickets genetics
Fanconi Syndrome genetics
Sodium-Phosphate Cotransporter Proteins, Type IIa genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1533-4406
- Volume :
- 362
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- The New England journal of medicine
- Publication Type :
- Academic Journal
- Accession number :
- 20335586
- Full Text :
- https://doi.org/10.1056/NEJMoa0905647