XB-ART-41353
N Engl J Med
2010 Mar 25;36212:1102-9. doi: 10.1056/NEJMoa0905647.
Show Gene links
Show Anatomy links
A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.
???displayArticle.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.
???displayArticle.pubmedLink??? 20335586
???displayArticle.link??? N Engl J Med
???displayArticle.grants???
Species referenced: Xenopus laevis