Stuiver et al. (2011) studied 2 families segregating autosomal dominant renal hypomagnesemia, 1 from the Netherlands and 1 from the Czech Republic. In both families, the index patients had severely lowered serum Mg(2+) levels in the absence of ... Stuiver et al. (2011) studied 2 families segregating autosomal dominant renal hypomagnesemia, 1 from the Netherlands and 1 from the Czech Republic. In both families, the index patients had severely lowered serum Mg(2+) levels in the absence of other electrolyte disturbances, and affected individuals showed an inappropriately normal urinary Mg(2+) excretion, demonstrating a defect in tubular reabsorption. Stuiver et al. (2011) noted that although serum Mg(2+) levels in both probands and their affected parents were in the same decreased range, there was remarkable variability in the age of clinical (symptomatic) onset of disease: in the Dutch proband, onset of clinical disease was at 2 years of age, whereas in her father it was at 15 years of age, and in the Czech family, the affected mother was asymptomatic. The authors suggested that genetic modifying factors and/or environmental factors were likely involved.
In affected individuals from a Dutch and a Czech family segregating autosomal dominant renal hypomagnesemia, who were known to be negative for mutation in the FXYD2 (601814), EGF (131530), and SLC12A3 (600968) genes, Stuiver et al. (2011) analyzed ... In affected individuals from a Dutch and a Czech family segregating autosomal dominant renal hypomagnesemia, who were known to be negative for mutation in the FXYD2 (601814), EGF (131530), and SLC12A3 (600968) genes, Stuiver et al. (2011) analyzed the candidate gene CNNM2 and identified heterozygosity for a 1-bp deletion (607803.0001) and a missense mutation (607803.0002), respectively. Neither mutation was found in more than 200 ethnically matched control chromosomes.