Mutation of TPRM6 causes familial hypomagnesemia with secondary hypocalcemia

Roxanne Y. Walder, Daniel Landau, Peter Meyer, Hanna Shalev, Maria Tsolia, Zvi Borochowitz, Melanie Barbara Boettger, Gretel E. Beck, Richard K. Englehardt, Rivka Carmi, Val C. Sheffield

Research output: Contribution to journalArticlepeer-review

447 Scopus citations

Abstract

Familial hypomagnesemia with secondary hypocalcemia (OMIM 602014) is an autosomal recessive disease that results in electrolyte abnormalities shortly after birth. Affected individuals show severe hypomagnesemia and hypocalcemia, which lead to seizures and tetany. The disorder has been thought to be caused by a defect in the intestinal absorption of magnesium, rather than by abnormal renal loss of magnesium. Restoring the concentrations of serum magnesium to normal values by high-dose magnesium supplementation can overcome the apparent defect in magnesium absorption and in serum concentrations of calcium. Life-long magnesium supplementation is required to overcome the defect in magnesium handling by these individuals. We previously mapped the gene locus to chromosome 9q in three large inbred kindreds from Israel. Here we report that mutation of TRPM6 causes hypomagnesemia with secondary hypocalcemia and show that individuals carrying mutations in this gene have abnormal renal magnesium excretion.

Original languageEnglish
Pages (from-to)171-174
Number of pages4
JournalNature Genetics
Volume31
Issue number2
DOIs
StatePublished - 1 Jan 2002

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