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Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation.
- Source :
-
Nature genetics [Nat Genet] 1994 Nov; Vol. 8 (3), pp. 303-7. - Publication Year :
- 1994
-
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.
- Subjects :
- Amino Acid Sequence
Animals
Base Sequence
DNA Mutational Analysis
DNA, Complementary genetics
Female
Heterozygote
Homeostasis
Humans
Inositol 1,4,5-Trisphosphate metabolism
Lod Score
Male
Molecular Sequence Data
Mutagenesis, Site-Directed
Oocytes
Pedigree
Receptors, Calcium-Sensing
Recombinant Fusion Proteins metabolism
Tetany genetics
Xenopus laevis
Calcium blood
Genes, Dominant
Hypocalcemia genetics
Point Mutation
Receptors, Cell Surface genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1061-4036
- Volume :
- 8
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Nature genetics
- Publication Type :
- Academic Journal
- Accession number :
- 7874174
- Full Text :
- https://doi.org/10.1038/ng1194-303