Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation.
Nat Genet
; 8(3): 303-7, 1994 Nov.
Article
em En
| MEDLINE
| ID: mdl-7874174
ABSTRACT
Defects in the human Ca(2+)-sensing receptor gene have recently been shown to cause familial hypocalciuric hypercalcaemia and neonatal severe hyperparathyroidism. We now demonstrate that a missense mutation (Glu128Ala) in this gene causes familial hypocalcaemia in affected members of one family. Xenopus oocytes expressing the mutant receptor exhibit a larger increase in inositol 1,4,5-triphosphate in response to Ca2+ than oocytes expressing the wild-type receptor. We conclude that this extracellular domain mutation increases the receptor's activity at low Ca2+ concentrations, causing hypocalcaemia in patients heterozygous for such a mutation.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cálcio
/
Mutação Puntual
/
Receptores de Superfície Celular
/
Genes Dominantes
/
Hipocalcemia
Limite:
Animals
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Nat Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
1994
Tipo de documento:
Article