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N Engl J Med. 2010 Mar 25;362(12):1102-9. doi: 10.1056/NEJMoa0905647.

A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.

Author information

  • 1Pediatric Nephrology Unit, Rambam Health Care Campus, Haifa, Israel. danmag@tx.technion.ac.il

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.

2010 Massachusetts Medical Society

PMID:
20335586
[PubMed - indexed for MEDLINE]
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