title: Identification of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis.
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.
authors.affiliation: Department of Internal Medicine I, St. Josef Hospital, Ruhr-University of Bochum, Germany. peter.felderbauer@rub.de
authors.forename: P
authors.initials: P
authors.lastname: Felderbauer
authors.forename: P
authors.initials: P
authors.lastname: Hoffmann
authors.forename: W
authors.initials: W
authors.lastname: Klein
authors.forename: K
authors.initials: K
authors.lastname: Bulut
authors.forename: N
authors.initials: N
authors.lastname: Ansorge
authors.forename: J T
authors.initials: JT
authors.lastname: Epplen
authors.forename: F
authors.initials: F
authors.lastname: Schmitz
authors.forename: W E
authors.initials: WE
authors.lastname: Schmidt
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D003596:Cytosine; D006579:Heterozygote; D006801:Humans; D006934:Hypercalcemia / Q000235:genetics*; D006996:Hypocalcemia / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D044169:Receptors, Calcium-Sensing / Q000235:genetics*; D013941:Thymine
chemical_list: D044169:Receptors, Calcium-Sensing; D003596:Cytosine; D013941:Thymine