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N Engl J Med. March 25, 2010; 362 (12): 1102-9.

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

Magen D , Berger L , Coady MJ , Ilivitzki A , Militianu D , Tieder M , Selig S , Lapointe JY , Zelikovic I , Skorecki K .

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.

PubMed ID: 20335586
Article link: N Engl J Med.
Grant support: MOP-10580 Canadian Institutes of Health Research

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