Identification and functional characterization of loss-of-function mutations of the calcium-sensing receptor in four Italian kindreds with familial hypocalciuric hypercalcemia

European Journal of Endocrinology

Volumn 160, Issue 3, 2009, Pages 481-489

  Cetani, Filomena ^a   Lemmi, Monica ^a   Cervia, Davide ^b   Borsari, Simona ^a   Cianferotti, Luisella ^a   Pardi, Elena ^a   Ambrogini, Elena ^a   Banti, Chiara ^a   Brown, Edward M ^c   Bagnoli, Paola ^a   Pinchera, Aldo ^a   Marcocci, Claudio ^a  

^a UNIVERSITY OF PISA   (Italy)

^b UNIVERSITY OF TUSCIA   (Italy)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CALCIUM SENSING RECEPTOR; GENOMIC DNA;

ADULT; AGED; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; BINDING AFFINITY; CASE REPORT; CELL SURFACE; CLINICAL EVALUATION; CYTOSOL; DNA TRANSFECTION; EXTRACELLULAR CALCIUM; FAMILIAL DISEASE; FEMALE; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC IDENTIFICATION; HETEROZYGOSITY; HUMAN; HYPERCALCEMIA; HYPOCALCIURIA; ITALY; MALE; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; WILD TYPE; ANIMAL; BLOOD; CELL STRAIN COS1; CERCOPITHECUS; CONFOCAL MICROSCOPY; FAMILY HEALTH; FLUORESCENCE MICROSCOPY; GENETIC TRANSFECTION; GENETICS; METABOLISM; MIDDLE AGED; RNA SPLICING; URINE;

ADULT; AGED; ANIMALS; CALCIUM; CERCOPITHECUS AETHIOPS; COS CELLS; FAMILY HEALTH; FEMALE; HUMANS; HYPERCALCEMIA; ITALY; MALE; MICROSCOPY, CONFOCAL; MICROSCOPY, FLUORESCENCE; MIDDLE AGED; MUTATION, MISSENSE; RECEPTORS, CALCIUM-SENSING; RNA SPLICE SITES; TRANSFECTION;

EID: 62649100283     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-08-0798     Document Type: Article

References (32)

1. Marx SJ, Attie MF, Levine MA, Spiegel AM, Downs RW Jr & Lasker RD. The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindreds. Medicine 1981 60 397-412.
2. Auwerx J, Demedts M & Bouillon R. Altered parathyroid set point to calcium in familial hypocalciuric hypercalcaemia. Acta Endocrinologica 1984 106 215-218.
3. Brown EM & MacLeod RJ. Extracellular calcium sensing and extracellular calcium signaling. Physiological Reviews 2001 81 239-297.
4. +)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 1993 75 1297-1303.
5. 2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. American Journal of Human Genetics 1995 56 1075-1079.
6. Pidasheva S, D'Souza-Li L, Canaff L, Cole DE & Hendy GN. CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Human Mutation 2004 24 107-111.
7. Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP & Thakker RV. Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. Journal of Clinical Investigation 1995 96 2683-2692.
8. Jap TS, Wu YC, Jenq SF & Won GS. A novel mutation in the calcium-sensing receptor gene in a Chinese subject with persistent hypercalcemia and hypocalciuria. Journal of Clinical Endocrinology and Metabolism 2001 86 13-15.
9. Yamauchi M, Sugimoto T, Yamaguchi T, Yano S, Wang J, Bai M, Brown EM & Chihara K. Familial hypocalciuric hypercalcemia caused by an R648stop mutation in the calcium-sensing receptor gene. Journal of Bone and Mineral Research 2002 17 2174-2182.
10. D'Souza-Li L, Canaff L, Janicic N, Cole DE & Hendy GN. An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Human Mutation 2001 18 411-421.
11. 2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. American Journal of Human Genetics 1995 56 880-886.
12. Cole DE, Janicic N, Salisbury SR & Hendy GN. Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene. American Journal of Human Genetics 1997 71 202-210.
13. Ho C, Conner DA, Pollak MR, Ladd DJ, Kifor O, Warren HB, Brown EM, Seidman JG & Seidman CE. A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Nature Genetics 1995 11 389-394.
14. Kifor O, Moore Jr FD, Delaney M, Garber J, Hendy GN, Butters R, Gao P, Cantor TL, Kifor I, Brown EM & Wysolmerski J. A syndrome of hypocalciuric hypercalcemia caused by autoantibodies directed at the calcium-sensing receptor. Journal of Clinical Endocrinology and Metabolism 2003 88 60-72.
15. Pallais JC, Kifor O, Chen YB, Slovik D & Brown EM. Acquired hypocalciuric hypercalcemia due to autoantibodies against the calcium-sensing receptor. New England Journal of Medicine 2004 351 362-369.
16. Heath III H, Jackson CE, Otterud B & Leppert MF. Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity. American Journal of Human Genetics 1993 53 193-200.
17. Lloyd SE, Pannett AA, Dixon PH, Whyte MP & Thakker RV. Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13. American Journal of Human Genetics 1999 64 189-195.
18. Cetani F, Pinchera A, Pardi E, Cianferotti L, Vignali E, Picone A, Miccoli P, Viacava P & Marcocci C. No evidence for mutations in the calcium-sensing receptor gene in sporadic parathyroid adenomas. Journal of Bone and Mineral Research 1999 14 878-882.
19. Cetani F, Pardi E, Borsari S, Tonacchera M, Morabito E, Pinchera A & Marcocci C. Two Italian kindreds with familial hypocalciuric hypercalcaemia caused by loss-of-function mutations in the calcium-sensing receptor (CaR) gene: functional characterization of a novel CaR missense mutation. Clinical Endocrinology 2003 58 199-206.
20. Traina G, Cannistraro S & Bagnoli P. Effects of somatostatin on intracellular calcium concentration in PC12 cells. Journal of Neurochemistry 1996 66 485-492.
21. Cervia D, Langenegger D, Schuepbach E, Cammalleri M, Schoeffter P, Schmid HA, Bagnoli P & Hoyer D. Binding and functional properties of the novel somatostatin analogue KE 108 at native mouse somatostatin receptors. Neuropharmacology 2005 48 881-893.
22. Law WM, Carney JA & Heath H III. Parathyroid glands in familial benign hypercalcemia (familial hypocalciuric hypercalcemia). American Journal of Medicine 1984 76 1021-1026.
23. Fukumoto S, Chikatsu N, Okazaki R, Takeuchi Y, Tamura Y, Muratami T, Obara T & Fujita T. Inactivating mutations of calcium-sensing receptor results in parathyroid lipohyperplasia. Diagnostic Molecular Pathology 2001 10 242-247.
24. Burski K, Torjussen B, Paulsen AQ, Boman H & Bollerslev J. Parathyroid adenoma in a subject with familial hypocalciuric hypercalcemia: coincidence or causality? Journal of Clinical Endocrinology and Metabolism 2002 87 1015-1016.
25. Carling T, Szabo E, Bai M, Ridefelt P, Westin G, Gustavsson P, Trivedi S, Hellman P, Brown EM, Dahl N & Rastad J. Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. Journal of Clinical Endocrinology and Metabolism 2000 85 2042-2047.
26. 2+-sensing receptor gene in human parathyroid tumors. Journal of Clinical Endocrinology and Metabolism 1995 80 3107-3110.
27. Szabo E, Carling T, Hessman O & Rastad J. Loss of heterozygosity in parathyroid glands of familial hypercalcemia with hypercalciuria and point mutation in calcium receptor. Journal of Clinical Endocrinology and Metabolism 2002 87 3961-3965.
28. Hofer AM & Brown EM. Extracellular calcium sensing and signalling. Nature Reviews. Molecular Cell Biology 2003 4 530-538.
29. Pin JP, Kniazeff J, Goudet C, Bessis AS, Liu J, Galvez T, Acher F, Rondard P & Prézeau L. The activation mechanism of class-C G-protein coupled receptors. Biology of the Cell 2004 96 335-342.
30. 2+ o-sensing receptor. Journal of Biological Chemistry 1996 271 19537-19545.
31. Pearce SH, Bai M, Quinn SJ, Kifor O, Brown EM & Thakker RV. Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. Journal of Clinical Investigation 1996 98 1860-1866.
32. Wystrychowski A, Pidasheva S, Canaff L, Chudek J, Kokot F, Wiecek A & Hendy GN. Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism. Journal of Clinical Endocrinology and Metabolism 2005 90 864-870.