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

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, René J.M.
Hoenderop, Joost G.J.
Devuyst, Olivier
Knoers, Nine V.A.M.

Publication date

August 2017

Abstract

Background Magnesium (Mg2+) is an essential ion for cell growth, neuroplasticity and muscle contraction. Blood Mg2+ levels <0.7 mmol/L may cause a heterogeneous clinical phenotype, including muscle cramps and epilepsy and disturbances in K+ and Ca2+ 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. Methods Here, two families with hypomagnesaemia and hypocalciuria were screened for muta...