Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia
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Publication date
2015-06
Authors
de Baaij, Jeroen H. F.
Dorresteijn, Eiske M.
Hennekam, Eric A M
Kamsteeg, Erik-Jan
Meijer, Rowdy
Dahan, Karin
Muller, Michelle
van den Dorpel, Marinus A.
Bindels, Rene J. M.
Hoenderop, Joost G. J.
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Article
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taverne
Abstract
Background. Magnesium (Mg2+) is an essential ion for cell growth, neuroplasticity and muscle contraction. Blood Mg2+ levels Methods. Here, two families with hypomagnesaemia and hypocalciuria were screened for mutations in the FXYD2 gene. Moreover, the patients were clinically and genetically characterized. Results. We report a p.Gly41Arg FXYD2 mutation in two families with hypomagnesaemia and hypocalciuria. Interestingly, this is the same mutation as was described in the original study. As in the initial family, several patients suffered from muscle cramps, chondrocalcinosis and epilepsy. Haplotype analysis revealed an overlapping haplotype in all families, suggesting a founder effect. Conclusions. The recurrent p.Gly41Arg FXYD2 mutation in two new families with IDH confirms that FXYD2 mutation causes hypomagnesaemia. Until now, no other FXYD2 mutations have been reported which could indicate that other FXYD2 mutations will not cause hypomagnesaemia or are embryonically lethal.
Keywords
distal convoluted tubule, FXYD2, kidney, magnesium, Na+-K+-ATPase, RENAL MAGNESIUM LOSS, NA+,K+-ATPASE GAMMA-SUBUNIT, RAT-KIDNEY, HYPOKALEMIA, Taverne, Journal Article, Research Support, Non-U.S. Gov't
Citation
de Baaij, J H F, Dorresteijn, E M, Hennekam, E A M, Kamsteeg, E-J, Meijer, R, Dahan, K, Muller, M, van den Dorpel, M A, Bindels, R J M, Hoenderop, J G J, Devuyst, O & Knoers, N V A M 2015, 'Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia', Nephrology Dialysis Transplantation, vol. 30, no. 6, pp. 952-957. https://doi.org/10.1093/ndt/gfv014