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Letter

Nature Genetics 31, 171–174 (1 June 2002) | doi:10.1038/ng901

Mutation of TRPM6 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

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.