A novel germline inactivating mutation in the CASR gene in an Italian kindred affected by familial hypocalciuric hypercalcemia

• Published in: European journal of endocrinology Vol. 166; no. 5; pp. 933 - 940
• Main Authors: Falchetti, Alberto, Gozzini, Alessia, Terranegra, Annalisa, Soldati, Laura, Vezzoli, Giuseppe, Leoncini, Gigliola, Giusti, Francesca, Franceschelli, Francesco, Masi, Laura, Tanini, Annalisa, Cavalli, Loredana, Brandi, Maria Luisa
• Format: Journal Article
• Language: English
• Published: Bristol BioScientifica 01.05.2012
• Subjects: Adult; Benign; Biological and medical sciences; Calcium (blood); Calcium (intracellular); Calcium homeostasis; Calcium-sensing receptors; Clinical Study; Codons; Endocrinopathies; Fundamental and applied biological sciences. Psychology; Germ-Line Mutation - genetics; HEK293 Cells; Humans; Hypercalcemia; Hypercalcemia - congenital; Hypercalcemia - diagnosis; Hypercalcemia - genetics; Hypophosphatemia; Italy; Male; Medical sciences; Mutation - genetics; Nonsense mutation; Parathyroid; Parathyroid hormone; Parathyroidectomy; Pedigree; Receptors, Calcium-Sensing - genetics; Site-directed mutagenesis; Vertebrates: endocrinology; Italy; Europe; Hypercalcemia; Hydroelectrolytic balance disorder; Metabolic disorder; Calcium; Gene; Family study; Hypocalciuria; Germ line; Genetics; Mutation; Inorganic element; Endocrinology
• ISSN: 0804-4643; 1479-683X; 1479-683X
• DOI: 10.1530/EJE-11-0953

ObjectiveFamilial hypocalciuric hypercalcemia (FHH) syndrome is a rare benign condition, inherited as an autosomal dominant trait, in which inactivating mutations of the calcium-sensing receptor (CASR) gene affects the body's ability to regulate calcium homeostasis. Its outcome is featured by i...