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A Loss-of-Function Mutation in NaPi-IIa and Renal Fanconi's Syndrome
Open accessAbstract
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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Cited by
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Mechanisms of phosphate transport
Levi, M., Gratton, E., Forster, I. C., Hernando, N., Wagner, C. A., Biber, J., Sorribas, V., & Murer, H. (2019) · Nature Reviews Nephrology · doi:10.1038/s41581-019-0159-y · Cited by 171
Renal phosphate handling and inherited disorders of phosphate reabsorption: an update
Wagner, C. A., Rubio-Aliaga, I., & Hernando, N. (2019) · Pediatric Nephrology · doi:10.1007/s00467-017-3873-3 · Cited by 73
Sex steroids and the kidney: role in renal calcium and phosphate handling
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Metadata
- Authors
- Magen, D., Berger, L., Coady, M. J., Ilivitzki, A., Militianu, D., Tieder, M., Selig, S., Lapointe, J. Y., Zelikovic, I., & Skorecki, K.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2010-03-25
- Volume
- 362
- Issue
- 12
- Pages
- 1102-1109
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2040738721
- Cited by
- 227
- References
- 0
- FWCI
- 6.03
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: A Loss-of-Function Mutation in NaPi-IIa and Renal Fanconi's Syndrome. https://app.cochat.ai/papers/10.1056/nejmoa0905647
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- Magen, D., Berger, L., Coady, M. J., Ilivitzki, A., Militianu, D., Tieder, M., Selig, S., Lapointe, J. Y., Zelikovic, I., & Skorecki, K. (2010). A Loss-of-Function Mutation in NaPi-IIa and Renal Fanconi's Syndrome. New England Journal of Medicine. https://doi.org/10.1056/nejmoa0905647
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
