75
Views
15
CrossRef citations to date
0
Altmetric
Research Article

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism associated with mutations in the human Ca2+-sensing receptor gene in three Danish families

, , , , &
Pages 221-228 | Published online: 08 Jul 2009

REFERENCES

  • Foley TP, Harrison HC, Arnaud CD, Harrison HE. Familial benign hypercalcaemia. J Pediatr 1972; 81: 1060–7.
  • Marx SJ, Attiie MF, Levine MA, Spiegel AM, Downs Jr RW, Lasker RD. The hypocalciuric or benign variant of familial hypercalcemia: clinical and biochemical features in fifteen kindred's. Medicine 1981; 60: 397–412.
  • Law WM, Heath III H. Familial benign hyper-calcemia (hypocalciuric hypercalcemia): clinical and pathogenetic studies in 21 families. Ann Intern Med 1985; 102: 511–9.
  • Marx SJ, Attie MF, Spiegel AM, Levine MA, Lasker RD, Fox M. An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds. N Engl J Med 1982; 306: 257–64.
  • Marx SJ, Fraser D, Rapoport A. Familial hypocalciuric hypercalcemia: mild expression of the gene in heterozygous and severe expression in homozygous. Am J Med 1985; 78: 15–22.
  • Ross III AJ, Cooper A, Attie MF, Bishop HC. Primary hyperparathyroidism in infancy. J Pediart Surg 1986; 21: 493–9.
  • Steinmann B, Gnehm HE, Rao VH, Kind HP, Prader A. Neonatal severe primary hyperparathy-roidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia. Hely Paediatr Acta 1984; 39: 171 —86.
  • Eftekhari F, Yousefzadeh DK. Primary infantile hyperparathyroidism: clinical, laboratory, and radiographic features in 21 cases. Skel Radiol 1982; 8: 201–8.
  • Orwoll E, Silbert J, McClung M. Asymptomatic neonatal familial hypercalcemia. Pediatrics 1982; 69: 109–11.
  • Page LA, Haddow JE. Self-limited neonatal hyperparathyroidism in familial hypocalciuric hypercalcemia. J Pediatr 1987; 111: 261–4.
  • Harris SS, D'Ercole AJ. Neonatal hyperparathy-roidism: the natural course in the absence of surgical intervention. Pediatrics 1989; 83: 53–6.
  • Cole DEC, Forsythe CR, Dooley JM, Grantmyre EB, Salisbury SR. Primary neonatal hyperpara-thyroidism: a devastating neurodevelopmental disorder if left untreated. J Craniofacial Genet Dev Biol 1990; 10: 205–14.
  • Cooper L, Wertheimer J, Levey R, et al. Severe primary hyperparathyroidism in a neonate with two hypercalcemic parents: management with parathyroidectomy and hetrotopic autotrans-plantation. Pediatrics 1986; 78: 263–8.
  • Attie MF, Gill Jr JR, Stock JL, et al. Urinary calcium excretion in familial hypocalciuric hyper-calcemia: persistence of relative hypocalciuria after induction of hypoparathyroidism. J Clin Invest 1983; 72: 667–76.
  • Khosla S, Ebling PR, Firek AF, Burritt MM, Kao PC, Heath III H. Calcium infusion suggests a "set-point" abnormality of parathyroid gland function in familial benign hypercalcemia and more com- plex disturbances in primary hyperparathyroidism. J Clin Endocrinol Metab 1993; 76: 715–20.
  • Chou Y-HW, Brown EM, Levi T, et al. The gene responsible for familial hypocalciuric hypercalce-mia maps to chromosome 3q in four unrelated families. Nature Genet 1992; 1: 295–9.
  • Heath III H, Jackson CE, Otterud B, Leppert MF. Genetic linkage analysis in familial benign (hypo-calciuric) hypercalcemia: evidence for locus het-erogeneity. Am J Hum Genet 1993; 53: 193–200.
  • Pollak MR, Chou Y-HW, Marx SJ, et al. Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism: effects of mutant gene dosage on phenotype. J Clin Invest 1994; 93: 1108— 12.
  • Lloyd SE, Pannett AA, Dixon PH, Whyte MP, Thakker RV. Localization of familial benign hypercalcemia, Oklahoma variant (FBH0k), to chromosome 19q13. Am J Hum Genet 1999; 64: 189— 95.
  • Brown EM, Gamba G, Riccardi D, et al. Cloning and characterization of an extracellular Ca2+-sensing receptor from bovine parathyroid. Nature 1993; 366: 575–60.
  • Garrett JE, Capuano IV, Hammerland LG, Hung BC, Brown EM, Hebert SC, Nemeth EF, Fuller F. Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs. J Biol Chem 1995; 270: 12919–25.
  • Aida K, Koishi S, Tawata M, Onaya T. Molecular cloning of a putative Ca2+-sensing receptor cDNA from human kidney. Biochem Biophys Res Comm 1995; 214: 524–9.
  • Pollak MR, Brown EM, Wu Chou Y-H, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG. Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathy-roidism. Cell 1993; 75: 1297–303.
  • Bai M, Quinn S, Trivedi S, Kifor 0, Pearce SHS, Pollak MR, Krapcho K, Hebert SC, Brown EM. Expression and characterization of inactivating mutations in the Ca2+-sensing receptor. J Biol Chem 1996; 271: 19537–45.
  • Aida K, Koishi S, Inoue M, Nakazato M, Tawata M, Onaya T. Familial hypercalcemia associated with mutation in the human Ca2+-sensing recep-tor gene. J Clin Endocrinol Metab 1995; 80: 2594–8.
  • Pearce S, Trump D, Wooding C, Besser G, Chew S, Heath D, Hughes I, Thakker R. Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest 1995; 96: 2683–92.
  • Janicic N, Pausova Z, Cole DEC, Hendy GN. Insertion of an alu sequence in the Ca2+-sensing receptor gene in familial hypocalciuric hypercalce-mia and neonatal severe hyperparathyroidism. Am J Hum Genet 1995; 56: 880–6.
  • Heath H III, Odelberg S, Jackson C, Teh B, Hayward N, Larsson C, Buist N, Krapcho K, Hung B, Capuano I, Garrett J, Leppert M. Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia sug-gest receptor functional domains. J Clin Endocri-nol Metab 1996; 81: 1312–7.
  • Lonborg Friis I, Larsen NE, Lillquist K, Schwarz P. Neonatal svxr hyperparathyreoidisme. Ugeskr Lxger 1999; 00: 000–000. (accepted)
  • Brown EM. Physiology and pathophysiology of the extracellular calcium-sensing receptor. Am J Med 1999; 106: 238–53.
  • Pearce SHS, Bai M, Quinn SJ, Kifor 0, Brown EM, Thakker RV. Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. J Clin Invest 1996; 98: 1860–6.
  • Masu M, Tanabe Y, Tschida K, Nakanishi S. Sequence and expression of a metabotropic glutamate receptor. Nature 1991; 349: 760–5.
  • O'Hara PJ, Sheppard PO, Thogersen H, Venezia D, Haldeman BA, McGrane V, Houamed KM, Thomsen C, Gilbert TL, Mulvihill ER. The ligand-binding domain in metabotropic glutamate receptors is related to bacterial periplasmic bind-ing proteins. Neuron 1993; 11: 41.
  • Kubo Y, Miyashita T, Murata Y. Structural basis for a Ca2+-sensing function of the metabotropic glutamate receptors. Science 1998; 279: 1722–5.
  • Brauner-Osborne H, Jensen AA, Sheppard PO, O'Hara P, Krogsgaard-Larsen P. The agonist-binding domain of the calcium-sensing receptor is located at the amino-terminal domain. J Biol Chem 1999; 274: 18382–6.
  • Bai M, Trivedi S, Brown EM. Dimerization of the extracellular calcium-sensing receptor (CaR) on the cell surface of the CaR-transfected HEK293 cells. J Biol Chem 1998; 273: 23605–10.
  • Ward DT, Brown EM, Harris HW. Disulphide bonds in the extracellular calcium-polyvalent cation-sensing receptor correlate with dimer for-mation and its response to divalent cations in vitro. J Biol Chem 1998; 273: 14476–83.
  • Bai M, Pearce SHS, Kifor 0, Trivedi S, Stauffer U, Thakker RV, Brown EM, Steinmann B. In vivo and in vitro characterization of neonatal hyper-parathyroidism resulting from a de novo hetero-zygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in famil-ial benign hypocalciuric hypercalcemia. J Clin Invest 1997; 99: 88–96.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.