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 -