Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association
Jeroen H F de BaaijNine V A M Knoers

Abstract

Magnesium (Mg(2+)) is an essential ion for cell growth, neuroplasticity and muscle contraction. Blood Mg(2+) levels <0.7 mmol/L may cause a heterogeneous clinical phenotype, including muscle cramps and epilepsy and disturbances in K(+) and Ca(2+) homeostasis. Over the last decade, the genetic origin of several familial forms of hypomagnesaemia has been found. In 2000, mutations in FXYD2, encoding the γ-subunit of the Na(+)-K(+)-ATPase, were identified to cause isolated dominant hypomagnesaemia (IDH) in a large Dutch family suffering from hypomagnesaemia, hypocalciuria and chondrocalcinosis. However, no additional patients have been identified since then. Here, two families with hypomagnesaemia and hypocalciuria were screened for mutations in the FXYD2 gene. Moreover, the patients were clinically and genetically characterized. 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. The recurrent p.Gly41Arg FXYD2 ...Continue Reading

References

May 1, 1987·Kidney International·W B GevenB G ter Haar
Jan 23, 1999·American Journal of Human Genetics·I C MeijN V Knoers
Feb 8, 2002·American Journal of Physiology. Renal Physiology·Elena ArystarkhovaKathleen J Sweadner
May 13, 2006·Journal of Bioenergetics and Biomembranes·Elena Arystarkhova, Kathleen J Sweadner
Mar 3, 2007·Journal of the American Society of Nephrology : JASN·Eva Riveira-MunozUNKNOWN Belgian Network for Study of Gitelman Syndrome
Sep 7, 2007·Journal of the American Society of Nephrology : JASN·Chou-Long Huang, Elizabeth Kuo
Dec 1, 2007·Arthritis and Rheumatism·Pascal RichetteThomas Bardin
Feb 1, 2008·Journal of the American Society of Nephrology : JASN·Kevin J MartinEduardo Slatopolsky
Apr 25, 2009·Journal of the American Society of Nephrology : JASN·Shazia AdalatDetlef Bockenhauer
Oct 30, 2010·Journal of the American Society of Nephrology : JASN·Lei YangLawrence G Palmer
Dec 7, 2010·Biochemical and Biophysical Research Communications·Silvia FerrèRené J M Bindels
Jan 14, 2011·The Journal of Biological Chemistry·Neeraj Kumar MishraSteven J D Karlish
Mar 14, 2012·Clinical Science·Anke L LamerisJoost G J Hoenderop
Nov 10, 2013·Journal of the American Society of Nephrology : JASN·Silvia FerrèRené J M Bindels
Feb 1, 2012·Clinical Kidney Journal·Jeroen H F de BaaijRené J M Bindels

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Citations

Dec 24, 2015·Diabetes·Lisanne M M GommersJeroen H F de Baaij
May 29, 2016·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Daan H H M VieringDetlef Bockenhauer
Mar 3, 2017·Clinical and Experimental Nephrology·Tomoko HorinouchiKazumoto Iijima
Dec 3, 2016·Current Opinion in Pediatrics·Matthias Tilmann Florian Wolf
Jun 29, 2016·Scientific Reports·Jeroen H F de BaaijJoost G J Hoenderop
Jun 20, 2019·Physiological Reviews·Jenny van der WijstOlivier Devuyst
Apr 25, 2018·Frontiers in Pediatrics·Paula Giménez-MascarellDominik Müller
Sep 4, 2018·Physiological Reports·Haim MayanSteven J D Karlish
Sep 17, 2020·The Journal of Physiology·Lucile FigueresPascal Houillier
Jul 1, 2020·Acta Physiologica·Gijs A C FrankenJeroen H F de Baaij
Feb 19, 2021·Human Mutation·Gijs A C FrankenJeroen H F de Baaij
Mar 19, 2021·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Rosa Vargas-Poussou
Apr 17, 2021·Scientific Reports·Gijs A C FrankenJeroen H F de Baaij
Apr 20, 2021·The Journal of General Physiology·Michael Habeck, Hanne Poulsen
Apr 29, 2021·The Proceedings of the Nutrition Society·Willem BosmanJeroen H F de Baaij
Jul 8, 2021·American Journal of Physiology. Cell Physiology·Elisa D BiondoPablo Artigas

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