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Identification of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis.
- Source :
-
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association [Exp Clin Endocrinol Diabetes] 2005 Jan; Vol. 113 (1), pp. 31-4. - Publication Year :
- 2005
-
Abstract
- Calcium-sensing receptor gene (CASR) mutations that alter the function of the G protein coupled Ca (2+)-sensing receptor are reported in patients with familial hypocalciuric hypercalcemia (FHH), autosomal dominant hypocalcemia (ADH), and neonatal severe hyperparathyroidism (NSHPT). In search for novel disease causing mutations in the CASR gene, we screened exons 2 - 7 of the CASR gene of a family with FHH using single-strand conformation polymorphism analysis. We identified a novel CASR mutation (c.518 T > C; L173 P) in exon 4 encoding for the extracellular domain of the Ca (2+)-sensing receptor. This region seems to represent a hot spot within the CASR gene with at least 13 reported disease causing mutations thus far.
Details
- Language :
- English
- ISSN :
- 0947-7349
- Volume :
- 113
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association
- Publication Type :
- Academic Journal
- Accession number :
- 15662592
- Full Text :
- https://doi.org/10.1055/s-2004-830523