Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutation
Authors:
- 1 November 1994
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 8 (3) , 303-307
Abstract
Defects in the human Ca2+-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.Keywords
This publication has 17 references indexed in Scilit:
- Relation between intracellular Ca2+ signals and Ca2+-activated Cl− current in Xenopus oocytesCell Calcium, 1994
- Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.Journal of Clinical Investigation, 1994
- Cloning and characterization of an extracellular Ca2+-sensing receptor from bovine parathyroidNature, 1993
- Turned on to ill effectNature, 1993
- A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious pubertyNature, 1993
- Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomasNature, 1993
- Cloning and expression of an inwardly rectifying ATP-regulated potassium channelNature, 1993
- Inositol trisphosphate and calcium signallingNature, 1993
- The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated familiesNature Genetics, 1992
- Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus.Journal of Medical Genetics, 1981