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Magen, Daniella; Berger, Liron; Coady, Michael J; Ilivitzki, Anat; Militianu, Daniela; Tieder, Martin; Selig, Sara; Lapointe, Jean Yves; Zelikovic, Israel; Skorecki, Karl
The New England journal of medicine, 03/2010, Letnik: 362, Številka: 12Journal Article
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.
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