Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 8, 2003, Pages 3674-3681

  Hendy, Geoffrey N ^a   Minutti, Carla ^b   Canaff, Lucie ^a   Pidasheva, Svetlana ^a   Yang, Bing ^a   Nouhi, Zaynab ^a   Zimmerman, Donald ^b   Wei, Cuihong ^c   Cole, David E C ^c  

^a ROYAL VICTORIA HOSPITAL   (Canada)

^b MAYO CLINIC   (United States)

^c UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; CALCIUM; CALCIUM SENSING RECEPTOR; COMPLEMENTARY DNA; CREATININE; G PROTEIN COUPLED RECEPTOR; GENOMIC DNA; MITOGEN ACTIVATED PROTEIN KINASE; PARATHYROID HORMONE; PHOSPHATE; VITAMIN D;

ARTICLE; CALCIUM BLOOD LEVEL; CASE REPORT; CHILD; CREATININE BLOOD LEVEL; DNA FINGERPRINTING; ENZYME ASSAY; FAMILIAL DISEASE; GENE MUTATION; GENOTYPE; HAPLOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; HYPOCALCEMIA; KIDNEY CELL; MAGNESIUM BLOOD LEVEL; MALE; MOSAICISM; PARATHYROID GLAND; PEDIGREE ANALYSIS; PHOSPHATE BLOOD LEVEL; PRIORITY JOURNAL; RECEPTOR GENE; RECURRENT DISEASE;

ADOLESCENT; ADULT; CALCIUM; CHILD; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA FINGERPRINTING; EXONS; FEMALE; HAPLOTYPES; HUMANS; HYPOCALCEMIA; MALE; MITOGEN-ACTIVATED PROTEIN KINASES; MOSAICISM; MUTATION; PEDIGREE; PROTEIN DENATURATION; RECEPTORS, CALCIUM-SENSING; RECEPTORS, CELL SURFACE; RECURRENCE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 0041382469     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2003-030409     Document Type: Article

References (27)

1. 2+-sensing receptor from bovine parathyroid. Nature 366:575-580
2. Brown EM, MacLeod RJ 2001 Extracellular calcium sensing and extracellular calcium signaling. Physiol Rev 81:239-297
3. Janicic N, Soliman E, Pausova Z, Seldin MF, Riviere M, Szpirer J, Hendy GN 1995 Mapping of the calcium-sensing receptor gene (CASR) to human chromosome 3q13.3-21 by fluorescence in situ hybridization, and localization to rat chromosome 11 and mouse chromosome 16. Mamm Genome 6:798-801
4. 2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 75:1297-1303
5. 2+-sensing receptor gene mutation. Nat Genet 8:303-307
6. McKusick VA 1998 Mendelian inheritance in man. Catalogs of human genes and genetic disorders, 12th Ed. Baltimore: Johns Hopkins University Press
7. Hendy GN, D'Souza-Li L Yang B, Canaff L, Cole DEC 2000 Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mut 16:281-296
8. D'Souza-Li L, Yang B, Canaff L, Bai M, Hanley DA, Bastepe M, Salisbury SR, Brown EM, Cole DEC, Hendy GN 2002 Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia. J Clin Endocrinol Metab 87:1309-1318
9. 2+-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. Hum Mol Genet 5:601-606
10. Tan YM, Cardinal J, Franks AH, Mun H-C, Lewis N, Harris LB, Prins JB, Conigrave AD 2003 Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor. J Clin Endocrinol Metab 88:605-610
11. Pearce SHS, Williamson C, Kifor O, Bai M, Coulthard MG, Davies M, Lewis-Barned N, McCredie D, Powell H, Kendall-Taylor P, Brown EM, and Thakker RV 1996 A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor gene. N Engl J Med 335;1115-1122
12. Lienhardt A, Bai M, Lagarde J-P, Rigaud M, Zhang Z, Jiang Y, Kottler M-L, Brown EM, Garabedian M 2001 Activating mutations of the calcium-sensing receptor: management of hypocalcemia. J Clin Endocrinol Metab 86:5313-5323
13. Pidasheva D, D'Souza-Li L, Cole DEC, Hendy GN 2002 CASRdb, calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia [Abstract M441]. J Bone Miner Res 17(Suppl 1):S494.
14. Oefner PJ, Underhill PA 1998 DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC). In: Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG, Smith DR, eds. Current protocols in human genetics. New York: Wiley & Sons; vol 19:7.10.1-7.10.12
15. D'Souza-Li L, Canaff L, Janicic N, Cole DEC, Hendy GN 2001 An acceptor splice site mutation in the calcium-sensing receptor (CASR) gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Hum Mutat 18:411-421
16. Watanabe T, Bai M, Lane CR, Matsumoto S, Minamitani K, Minagawa M, Niimi H, Brown EM, Yasuda T 1998 Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor. J Clin Endocrinol Metab 83:2497-2502
17. Canaff L and Hendy GN 2002 Human calcium-sensing receptor gene. Vitamin D response elements in promoters P1and P2 confer transcriptional responsiveness to 1,25-dihydroxyvitamin D. J Biol Chem 277:30337-30350
18. Kifor O, MacLeod RJ, Diaz R, Bai M, Yamaguchi T, Yao T, Kifor I, and Brown EM 2001 Regulation of MAP kinase by calcium-sensing receptor in bovine parathyroid and CaR-transfected HEK293 cells. Am J Physiol 280:F291-F302
19. Corbetta S, Lania A, Filopanti M, Vicentini L, Ballaré E, and Spada A 2002 Mitogen-activated protein kinase cascade in human normal and tumoral parathyroid cells. J Clin Endocrinol Metab 87:2201-2205
20. Xiao W, Oefner PJ 2001 Denaturing high-performance liquid chromatography: a review. Hum Mut 17:439-474
21. Jones AC, Sampson JR, Cheadle JP 2001 Low level mosaicism detectable by DHPLC but not by direct sequencing. Hum Mut 17:233-234
22. Cohn DH, Starman RJ, Blumberg B, Byers PH 1990 Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type 1 collagen gene (COL1A1). Am J Hum Genet 46:591-601
23. Kwiatkowska J, Wigowska-Sowinska J, Napierala D, Slomski R, Kwiatkowski DJ 1999 Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis. N Engl J Med 340:703-707
24. Yates JRW, van Bakel I, Sepp T, Payne SJ, Webb DW, Nevin NC, Green AJ 1997 Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis. Hum Mol Genet 6:2265-2269
25. Zlotogora J 1998 Germ line mosaicism. Hum Genet 102:381-386
26. Verhoef S, Bakker L, Tempelaars AMP, Hesseling-Janssen ALW, Mazurcak T, Jowiak S, Fois A, Bartalini G, Zonnenberg BA, van Essen AJ, Lindout D, Halley DJJ, van den Ouweland AMW 1999 High rate of mosaicism in tuberous sclerosis complex. Am J Hum Genet 64:1632-1637
27. Leuer M, Oldenberg J, Laverrgne J-M, Ludwig M, Fregin A, Eigel A, Ljung R, Goodeve A, Peak I, Olek K 2001 Somatic mosaicism in hemophilia A: a fairly common event. Am J Hum Genet 69:75-87