Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia.

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.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Walder RY,Landau D,Meyer P,Shalev H,Tsolia M,Borochowitz Z,Boettger MB,Beck GE,Englehardt RK,Carmi R,Sheffield VC

doi

10.1038/ng901

keywords:

subject

Has Abstract

pub_date

2002-06-01 00:00:00

pages

171-4

issue

2

eissn

1061-4036

issn

1546-1718

pii

ng901

journal_volume

31

pub_type

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