Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia.
Nat Genet
; 31(2): 171-4, 2002 Jun.
Article
em En
| MEDLINE
| ID: mdl-12032570
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hipocalcemia
/
Canais Iônicos
/
Magnésio
/
Mutação
Tipo de estudo:
Etiology_studies
Limite:
Humans
Idioma:
En
Revista:
Nat Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
Estados Unidos