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 Medical Genetics

Volumn 71, Issue 2, 1997, Pages 202-210

  Cole, David E C ^a,d   Janicic, Nataša ^b   Salisbury, Sonia R ^c   Hendy, Geoffrey N ^b  

^a UNIVERSITY OF TORONTO   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c DALHOUSIE UNIVERSITY   (Canada)

^d Banting Building ^*  (Canada)

Author keywords

Alu repeat; Calcium sensing receptor; Familial hypocalciuric hypocalcemia; Mutation; Neonatal severe hyperparathyroidism; Secondary hyperparathyroidism

Indexed keywords

ARTICLE; CANADA; CHROMOSOME 3Q; CLINICAL ARTICLE; FEMALE; GENE MUTATION; HUMAN; HYPERCALCEMIA; HYPERPARATHYROIDISM; MALE; PHENOTYPE; PRIORITY JOURNAL; SECONDARY HYPERPARATHYROIDISM;

ADULT; CALCIUM; CONSANGUINITY; FEMALE; GENOTYPE; HUMANS; HYPERCALCEMIA; HYPERPARATHYROIDISM; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; RECEPTORS, CELL SURFACE; REPETITIVE SEQUENCES, NUCLEIC ACID;

EID: 0030744407     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19970808)71:2<202::aid-ajmg16>3.0.co;2-i     Document Type: Article

References (55)

1. Ausabel FM, Brent R, Kingston RE, Moore DD, Seidman JG, Smith JA, Struhl K (eds) (1987): "Current Protocols in Molecular Biology." New York: John Wiley & Sons.
2. 2+-sensing receptor gene: Normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia. J Clin Invest 99:88-96.
3. Bai M, Janicic N, Trivedi S, Quinn SJ, Cole DEC, Brown BM, Hendy GN (1997b): Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. J Clin Invest 99:1917-1925.
4. Batzer MA, Deininger PL, Hellman-Blumberg U, Jurka J, Labuda D, Rubin CM, Schmid DW, Zietkiewicz E, Zuckerkandl E (1996): Standardized nomenclature for Alu repeats. J Mol Evol 42:3-6.
5. 2+-sensing receptor from bovine parathyroid. Nature 366:575-580.
6. Brown EM, Pollak M, Seidman CE, Seidman JG, Chou YW, Riccardi D, Hebert SC (1995a): Calcium-ion-sensing cell-surface receptors. N Engl J Med 333:234-240.
7. Brown EM, Vassilev PM, Hebert SC (1995b): Calcium ions as extracellular messengers. Cell 83:679-682.
8. Cole DEC, Carpenter TO, Goltzman D (1989a): Calcium homeostasis and disorders of bone and mineral metabolism. In Collu R, Ducharme JR, Guyda HJ (eds): "Pediatric Endocrinology." New York: Raven Press, pp 509-580.
9. Cole DEC, McPhee MD, Crocker JFS (1989b): The hypocalcemic effect of inorganic sulfate infusion. Nephron 53:78-80.
10. Cole DEC, Forsythe CR, Dooley JM, Grantmyre EB, Salisbury SR (1990): Primary neonatal hyperparathyroidism: A devastating neurodevelopmental disorder if left untreated. J Craniofac Genet Dev Biol 10:205-214.
11. Cooper L, Wertheimer J, Levey R, Brown E, Leboff M, Wilkinson R, Anast CS (1986): Severe primary hyperparathyroidism in a neonate with two hypercalcemic parents: Management with parathyroidectomy and heterotopic autotransplantation. Pediatrics 78:263-268.
12. Eftekhari F, Yousefzadeh DK (1982): Primary infantile hyperparathyroidism: Clinical, laboratory, and radiographic features in 21 cases. Skeletal Radiol 8:201-208.
13. Finegold DN, Armitage MM, Galiani M, Matise TC, Pandian MR, Perry YM, Deka R, Ferrell RE (1994): Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13. Pediatr Res 36:414-417.
14. Fujimoto Y, Hazama H, Oku K (1990): Severe primary hyperparathyroidism in a neonate having a parent with hypercalcemia: Treatment by total parathyroidectomy and simultaneous heterotopic autotransplantation. Surgery 108:933-938.
15. Goldbloom RB, Gillis DA, Prasad M (1972): Hereditary parathyroid hyperplasia: A surgical emergency of early infancy. Pediatrics 49:514-523.
16. Grantmyre EB (1973): Roentgenographic features of "primary" hyperparathyroidism in infancy. J Can Assoc Radiol 24:257-260.
17. Harris SS, D'Ercole AJ (1989): Neonatal hyperparathyroidism: The natural course in the absence of surgical intervention. Pediatrics 83:53-56.
18. Heath H, Odelberg S, Jackson CE, Teh BT, Hayward N, Larsson C, Buist NRM, Krapcho KJ, Hung BC, Capuano IV, Garrett JE, Leppert MF (1996): Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains. J Clin Endocrinol Metab 81: 1312-1317.
19. Ho C, Conner DA, Pollak MR, Ladd DJ, Kifor O, Warren HB, Brown EM, Seidman JG, Seidman CE (1995): A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Nat Genet 11:389-394.
20. Janicic N, Pausova Z, Cole DEC, Hendy GN (1995a): Insertion of an Alu sequence in the Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Am J Hum Genet 56:880-886.
21. Janicic N, Soliman E, Pausova Z, Seldin MF, Riviere M, Szpirer J, Szpirer C, Hendy GN (1995b): 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. Mammal Genome 6:798-801.
22. Key LL Jr, Thorne M, Pitzer B, Volberg F, Turner C (1990): Management of neonatal hyperparathyroidism with parathyroidectomy and autotransplantation. J Pediatr 116:923-926.
23. Labuda D, Zietkiewicz E, Mitchell GA (1995): Alu elements as a source of genomic variation: Deleterious effects and evolutionary novelties. In Maraia RJ (ed): "The Impact of Short Interspersed Elements (SINEs) on the Host Genome." New York: R. G. Landes Company, pp 1-24.
24. Law WM, Heath H III (1985): Familial benign hypercalcemia (hypocalciuric hypercalcemia): Clinical and pathogenetic studies in 21 families. Ann Intern Med 102:511-519.
25. Loomis WF (1967): Skin-pigment regulation of vitamin-D biosynthesis in man: Variation in solar ultraviolet at different latitudes may have caused racial differentiation in man. Science 157:501-506.
26. Lutz P, Kane O, Pfersdorff A, Seiller F, Sauvage P, Levy JM (1986): Neonatal primary hyperparathyroidism: Total parathyroidectomy with autotransplantation of cryopreserved parathyroid tissue. Acta Paediatr Scand 75:179-182.
27. Marsh MN (1994): Bone disease and gluten sensitivity: Time to act, to treat, and to prevent. Am J Gastroenterol 89:2105-2107.
28. Marx SJ (1995): Calcium sensing comes full circle. Nat Genet 11:357-358.
29. Marx SJ, Attie MF, Levine MA, Spiegel AM, Downs RW Jr, Lasker RD (1981): The hypocalciuric or benign variant of familial hypercalcemia: Clinical and biochemical features in fifteen kindreds. Medicine (Baltimore) 60:397-412.
30. Marx SJ, Attie MF, Spiegel AM, Levine MA, Lasker RD, Fox M (1982a): An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds. N Engl J Med 306:257-264.
31. Marx SJ, Spiegel AM, Levine MA, Rizzoli RE, Lasker RD, Santora AC, Downs RW, Aurbach GD (1982b): Familial hypocalciuric hypercalcemia: The relation to primary parathyroid hyperplasia. N Engl J Med 307:416-426.
32. Marx SJ, Fraser D, Rapoport A (1985): Familial hypocalciuric hypercalcemia: Mild expression of the gene in heterozygotes and severe expression in homozygotes. Am J Med 78:15-22.
33. Marx SJ, Lasker RD, Brown EM, Fitzpatrick LA, Sweezey NB, Goldbloom RB, Gillis DA, Cole DEC (1986): Secretory dysfunction in parathyroid cells from a neonate with severe primary hyperparathyroidism. J Clin Endocrinol Metab 62:445-449.
34. McKusick V (1996) "Online Mendelian Inheritance in Man (OMIM)." Baltimore: Johns Hopkins University Press.
35. McMurtry CT, Schranck FW, Walkenhorst DA, Murphy WA, Kocher DB, Teitelbaum SL, Rupich RC, Whyte MP (1992): Significant developmental elevation in serum parathyroid hormone levels in a large kindred with familial benign (hypocalciuric) hypercalcemia. Am J Med 93:247-258.
36. Meeran K, Husain M, Puccini M, Scott H, Dionisi-Vici C, Harvey DR, Lynn J, Thakker RV (1994): Neonatal primary hyperparathyroidism masked by vitamin D deficiency. Clin Endocrinol (Oxf) 41:531-534.
37. Nemeth EF, Steffey ME, Fox J (1996): The parathyroid calcium receptor: A novel therapeutic target for treating hyperparathyroidism. Pediatr Nephrol 10:275-279.
38. Nishiyama S, Tomoeda S, Inoue F, Ohta T, Matsuda I (1990): Self-limited neonatal familial hyperparathyroidism associated with hypercalciuria and renal tubular acidosis in three siblings. Pediatrics 86:421-427.
39. Page LA, Haddow JE (1987): Self-limited neonatal hyperparathyroidism in familial hypocalciuric hypercalcemia. J Pediatr 3:261-264.
40. Pasieka JL, Andersen MA, Hanley DA (1990): Familial benign hypercalcemia: Hypercalciuria and hypocalciuria in affected members of a small kindred. Clin Endocrinol (Oxf) 33:429-433.
41. Pearce SHS, Brown EM (1996): The genetic basis of endocrine disease: Disorders of calcium ion sensing. J Clin Endocrinol Metab 81:2030-2035.
42. Pearce SHS, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP, Thakker RV (1995): Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest 96:2683-2692.
43. 2+-sensing receptor gene mutation. Nat Genet 8:303-307.
44. Pollak MR, Chou YW, Marx SJ, Steinmann B, Cole DEC, Brandi ML, Papapoulos SE, Menko FH, Hendy GN, Brown EM, Seidman CE, Seidman JG (1994b): Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism: Effects of mutant gene dosage on phenotype. J Clin Invest 93:1108-1112.
45. Pollak MR, Seidman CE, Brown EM (1996): Three inherited disorders of calcium sensing. Medicine (Baltimore) 75:115-122.
46. Pomeranz A, Wolach B, Raz A, Ari YB (1992): Neonatal hyperparathyroidism: Conservative treatment with intravenous and oral rehydration solutions. Child Nephrol Urol 12:55-58.
47. Powell BR, Blank E, Benda G, Buist NRM (1993): Neonatal hyperparathyroidism and skeletal demineralization in an infant with familial hypocalciuric hypercalcemia. Pediatrics 91:144-145.
48. Ross R III, Cooper A, Attie MF, Bishop HC (1986): Primary hyperparathyroidism in infancy. J Pediatr Surg 21:493-499.
49. Schweiger F, Radhi J (1991): An asymptomatic male with coexisting celiac disease and primary biliary cirrhosis. Can J Gastroenterol 5:179-183.
50. Scriver CR (1984): The Canadian Rutherford Lecture: An evolutionary view of disease in man. Proc R Soc Lond [Biol] 220:273-298.
51. Scriver CR, Tenenhouse HS (1981): On the heritability of rickets, a common disease (Mendel, mammals and phosphate). Johns Hopkins Med J 149:179-187.
52. Train JJA, Yates RW, Sury MRJ (1995): Hypocalcaemic stridor and infantile nutritional rickets. Br Med J [Clin Res] 310:48-49.
53. Valdimarsson T, Lofman O, Toss G, Strom M (1996): Reversal of osteopenia with diet in adult coeliac disease. Gut 38:322-327.
54. Vieth R, Cole DEC (1996): The vitamin D endocrine system. In Gass GH, Kaplan HM (eds): "Handbook of Endocrinology." New York: CRC Press, pp 33-60.
55. Wilkinson H, James J (1993): Self limiting neonatal primary hyperparathyroidism associated with familial hypocalciuric hypercalcaemia. Arch Dis Child 69:319-321.