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Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase γ-subunit

Nature Genetics volume 26, pages 265–266 (2000)Cite this article

A Correction to this article was published on 01 January 2001

Abstract

Primary hypomagnesaemia is composed of a heterogeneous group of disorders characterized by renal or intestinal Mg2+ wasting, often associated with disturbances in Ca2+ excretion1. We identified a putative dominant-negative mutation in the gene encoding the Na+,K+-ATPase γ-subunit (FXYD2), leading to defective routing of the protein in a family with dominant renal hypomagnesaemia.

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Figure 1: Molecular analysis of FXYD2.
Figure 2: Confocal microscopy of γ-subunit localization.

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Acknowledgements

We thank J. Willems for serum magnesium determinations and helpful discussions; A. Hartog for support with immunocytochemistry experiments; S. van Emst and M. van Ham for help with COS-1 experiments; and H. Brunner, C. van Ravenswaaij, G. Merx and J. Schermer-Rotte for analysis of the del11q23–ter patients. This work was supported by the Dutch Kidney Foundation grant C95.001, by a Biomed II grant PL950260 from the European Economic Community and was sponsored by the Netherlands Foundation for Scientific Research (NWO-ALW) through grant 805-05.041.

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Authors and Affiliations

  1. Department of Pediatrics, Institute of Cellular Signaling, University Medical Centre Nijmegen, Nijmegen, The Netherlands

    Iwan C. Meij, Karin F.H. Assink, Wouter Tiel Groenestege, Leo A.H. Monnens & Lambert P.W.J. van den Heuvel

  2. Department of Biochemistry, Institute of Cellular Signaling, University Medical Centre Nijmegen, Nijmegen, The Netherlands

    Jan B. Koenderink & Jan Joep H.H.M. de Pont

  3. Department of Human Genetics, Institute of Cellular Signaling, University Medical Centre Nijmegen, Nijmegen, The Netherlands

    Hans van Bokhoven & Nine V.A.M. Knoers

  4. Department of Cell Physiology, Institute of Cellular Signaling, University Medical Centre Nijmegen, Nijmegen, The Netherlands

    René J.M. Bindels

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  1. Iwan C. Meij
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Correspondence to Nine V.A.M. Knoers.

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Meij, I., Koenderink, J., van Bokhoven, H. et al. Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase γ-subunit. Nat Genet 26, 265–266 (2000). https://doi.org/10.1038/81543

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