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

Jeroen H. F. de Baaij; Eiske M. Dorresteijn; Eric A. M. Hennekam; Erik-Jan Kamsteeg; Rowdy Meijer; Karin Dahan; Michelle Muller; Marinus A. van den Dorpel; Rene J. M. Bindels; Joost G. J. Hoenderop; Olivier Devuyst; Nine V. A. M. Knoers

doi:10.1093/ndt/gfv014

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

Jeroen H. F. de Baaij
, Eiske M. Dorresteijn
, Eric A. M. Hennekam
, Erik-Jan Kamsteeg
, Rowdy Meijer
, Karin Dahan
, Michelle Muller
, Marinus A. van den Dorpel
, Rene J. M. Bindels
, Joost G. J. Hoenderop
, Olivier Devuyst
, Nine V. A. M. Knoers^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Pages (from-to)	952-957
Number of pages	6
Journal	Nephrology Dialysis Transplantation
Volume	30
Issue number	6
DOIs	https://doi.org/10.1093/ndt/gfv014
Publication status	Published - Jun 2015

Keywords

distal convoluted tubule
FXYD2
kidney
magnesium
Na+-K+-ATPase
RENAL MAGNESIUM LOSS
NA+,K+-ATPASE GAMMA-SUBUNIT
RAT-KIDNEY
HYPOKALEMIA

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952.fullFinal published version, 304 KBLicence: Taverne

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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, 30(6), 952-957. https://doi.org/10.1093/ndt/gfv014

@article{cb73c0f268da4b6ab997f41da25ea680,

title = "Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia",

abstract = "Background. Magnesium (Mg2+) is an essential ion for cell growth, neuroplasticity and muscle contraction. Blood Mg2+ levelsMethods. 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",

author = "\{de Baaij\}, \{Jeroen H. F.\} and Dorresteijn, \{Eiske M.\} and Hennekam, \{Eric A. M.\} and Erik-Jan Kamsteeg and Rowdy Meijer and Karin Dahan and Michelle Muller and \{van den Dorpel\}, \{Marinus A.\} and Bindels, \{Rene J. M.\} and Hoenderop, \{Joost G. J.\} and Olivier Devuyst and Knoers, \{Nine V. A. M.\}",

year = "2015",

month = jun,

doi = "10.1093/ndt/gfv014",

language = "English",

volume = "30",

pages = "952--957",

journal = "Nephrology Dialysis Transplantation",

issn = "0931-0509",

publisher = "Oxford University Press",

number = "6",

}

TY - JOUR

T1 - Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia

AU - de Baaij, Jeroen H. F.

AU - Dorresteijn, Eiske M.

AU - Hennekam, Eric A. M.

AU - Kamsteeg, Erik-Jan

AU - Meijer, Rowdy

AU - Dahan, Karin

AU - Muller, Michelle

AU - van den Dorpel, Marinus A.

AU - Bindels, Rene J. M.

AU - Hoenderop, Joost G. J.

AU - Devuyst, Olivier

AU - Knoers, Nine V. A. M.

PY - 2015/6

Y1 - 2015/6

N2 - Background. Magnesium (Mg2+) is an essential ion for cell growth, neuroplasticity and muscle contraction. Blood Mg2+ levelsMethods. 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.

AB - Background. Magnesium (Mg2+) is an essential ion for cell growth, neuroplasticity and muscle contraction. Blood Mg2+ levelsMethods. 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.

KW - distal convoluted tubule

KW - FXYD2

KW - kidney

KW - magnesium

KW - Na+-K+-ATPase

KW - RENAL MAGNESIUM LOSS

KW - NA+,K+-ATPASE GAMMA-SUBUNIT

KW - RAT-KIDNEY

KW - HYPOKALEMIA

U2 - 10.1093/ndt/gfv014

DO - 10.1093/ndt/gfv014

M3 - Article

C2 - 25765846

SN - 0931-0509

VL - 30

SP - 952

EP - 957

JO - Nephrology Dialysis Transplantation

JF - Nephrology Dialysis Transplantation

IS - 6

ER -

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

Abstract

Keywords

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