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
DOIAbstract
BACKGROUND: 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. METHODS: Here, two families with hypomagnesaemia and hypocalciuria were scr...
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