Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism

• Published in: The Journal of clinical investigation Vol. 96; no. 6; pp. 2683 - 2692
• Main Authors: Pearce, S H, Trump, D, Wooding, C, Besser, G M, Chew, S L, Grant, D B, Heath, D A, Hughes, I A, Paterson, C R, Whyte, M P
• Format: Journal Article
• Language: English
• Published: United States 01.12.1995
• Subjects: Amino Acid Sequence; Base Sequence; Calcium - blood; Child; DNA Primers; Female; Genes, Tumor Suppressor; Genetic Carrier Screening; Humans; Hypercalcemia - genetics; Hypercalcemia - metabolism; Hyperparathyroidism - genetics; Hyperparathyroidism - metabolism; Infant, Newborn; Male; Molecular Sequence Data; Mutation; Parathyroid Glands - metabolism; Pedigree; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Receptors, Calcium-Sensing; Receptors, Cell Surface - genetics; Reference Values; Restriction Mapping

Familial benign hypercalcemia (FBH) and neonatal hyperparathyroidism (NHPT) are disorders of calcium homeostasis that are associated with missense mutations of the calcium-sensing receptor (CaR). We have undertaken studies to characterize such CaR mutations in FBH and NHPT and to explore methods for...