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 Genetjournal_title
Nature geneticsauthors
Walder RY,Landau D,Meyer P,Shalev H,Tsolia M,Borochowitz Z,Boettger MB,Beck GE,Englehardt RK,Carmi R,Sheffield VCdoi
10.1038/ng901keywords:
subject
Has Abstractpub_date
2002-06-01 00:00:00pages
171-4issue
2eissn
1061-4036issn
1546-1718pii
ng901journal_volume
31pub_type
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