Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1993 Feb;30(2):101–103. doi: 10.1136/jmg.30.2.101

Imprinting in Albright's hereditary osteodystrophy.

S J Davies 1, H E Hughes 1
PMCID: PMC1016262  PMID: 8383205

Abstract

Review of published reports of Albright's hereditary osteodystrophy (AHO) involving two or more generations shows a marked excess of maternal transmission. Full expression of the gene (AHO + hormone resistance, pseudohypoparathyroidism) occurs in maternally transmitted cases and partial expression (AHO alone) when the gene is inherited from the father, suggesting the involvement of genomic imprinting in the expression of this disorder.

Full text

PDF
101

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. ALBRIGHT F., FORBES A. P., HENNEMAN P. H. Pseudo-pseudohypoparathyroidism. Trans Assoc Am Physicians. 1952;65:337–350. [PubMed] [Google Scholar]
  2. BAKER D. H., CUSMANO J. V., FINBY N. Pseudohypoparathyroidism. Radiology. 1956 Dec;67(6):845–853. doi: 10.1148/67.6.845. [DOI] [PubMed] [Google Scholar]
  3. BAKWIN H., GORMAN W. F., ZIEGRA S. R. Pseudohypoparathyroid tetany. J Pediatr. 1950 May;36(5):567–576. doi: 10.1016/s0022-3476(50)80121-x. [DOI] [PubMed] [Google Scholar]
  4. Bell N. H., Avery S., Sinha T., Clark C. M., Jr, Allen D. O., Johnston C., Jr Effects of dibutyryl cyclic adenosine 3',5'-monophosphate and parathyroid extract on calcium and phosphorus metabolism in hypoparathyroidism and pseudohypoparathyroidism. J Clin Invest. 1972 Apr;51(4):816–823. doi: 10.1172/JCI106876. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. COHEN M. L., DONNELL G. N. Pseudohypoparathyroidism with hypothyroidism. A case report and review of literature. J Pediatr. 1960 Mar;56:369–382. doi: 10.1016/s0022-3476(60)80189-8. [DOI] [PubMed] [Google Scholar]
  6. Chase L. R., Melson G. L., Aurbach G. D. Pseudohypoparathyroidism: defective excretion of 3',5'-AMP in response to parathyroid hormone. J Clin Invest. 1969 Oct;48(10):1832–1844. doi: 10.1172/JCI106149. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. DICKSON L. G., MORITA Y., COWSERT E. J., GRAVES J., MEYER J. S. Neurological, electroencephalographic, and heredo-familial aspects of pseudohypoparathyroidism and pseudopseudohypoparathyroidism. J. J Neurol Neurosurg Psychiatry. 1960 Feb;23:33–39. doi: 10.1136/jnnp.23.1.33. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. DeChiara T. M., Robertson E. J., Efstratiadis A. Parental imprinting of the mouse insulin-like growth factor II gene. Cell. 1991 Feb 22;64(4):849–859. doi: 10.1016/0092-8674(91)90513-x. [DOI] [PubMed] [Google Scholar]
  9. Drezner M. K., Haussler M. R. Normocalcemic pseudohypoparathyroidism. Association with normal vitamin D3 metabolism. Am J Med. 1979 Mar;66(3):503–508. doi: 10.1016/0002-9343(79)91082-9. [DOI] [PubMed] [Google Scholar]
  10. FRAME B., CARTER S. Pseudohypoparathyroidism; clinical picture and relation to convulsive seizures. Neurology. 1955 May;5(5):297–310. doi: 10.1212/wnl.5.5.297. [DOI] [PubMed] [Google Scholar]
  11. Farfel Z., Brickman A. S., Kaslow H. R., Brothers V. M., Bourne H. R. Defect of receptor-cyclase coupling protein in psudohypoparathyroidism. N Engl J Med. 1980 Jul 31;303(5):237–242. doi: 10.1056/NEJM198007313030501. [DOI] [PubMed] [Google Scholar]
  12. Farfel Z., Brothers V. M., Brickman A. S., Conte F., Neer R., Bourne H. R. Pseudohypoparathyroidism: inheritance of deficient receptor-cyclase coupling activity. Proc Natl Acad Sci U S A. 1981 May;78(5):3098–3102. doi: 10.1073/pnas.78.5.3098. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Farriaux J. P. Letter: Pseudohypoparathyroidism. Biting insect summary. Am J Dis Child. 1976 Jul;130(7):780–781. [PubMed] [Google Scholar]
  14. Faull C. M., Welbury R. R., Paul B., Kendall-Taylor P. Pseudohypoparathyroidism: its phenotypic variability and associated disorders in a large family. Q J Med. 1991 Mar;78(287):251–264. [PubMed] [Google Scholar]
  15. Fischer J. A., Bourne H. R., Dambacher M. A., Tschopp F., De Meyer R., Devogelaer J. P., Werder E. A., Nagant De Deuxchaisnes C. Pseudohypoparathyroidism: inheritance and expression of deficient receptor-cyclase coupling protein activity. Clin Endocrinol (Oxf) 1983 Dec;19(6):747–754. doi: 10.1111/j.1365-2265.1983.tb00053.x. [DOI] [PubMed] [Google Scholar]
  16. Fitch N. Albright's hereditary osteodystrophy: a review. Am J Med Genet. 1982 Jan;11(1):11–29. doi: 10.1002/ajmg.1320110104. [DOI] [PubMed] [Google Scholar]
  17. Graudal N., Milman N., Nielsen L. S., Niebuhr E., Bonde J. Coexistent pseudohypoparathyroidism and D brachydactyly in a family. Clin Genet. 1986 Dec;30(6):449–455. doi: 10.1111/j.1399-0004.1986.tb01909.x. [DOI] [PubMed] [Google Scholar]
  18. Greenberg S. R., Karabell S., Saade G. A. Pseudohypoparathyroidism. A disease of the second messenger (3',5'-cyclic AMP). Arch Intern Med. 1972 Apr;129(4):633–637. doi: 10.1001/archinte.129.4.633. [DOI] [PubMed] [Google Scholar]
  19. Gwinn J. L., Lee F. A. Pseudohypoparathyroidism (infant) and pseudopseudohypoparathyroidism (mother). Am J Dis Child. 1970 May;119(5):447–448. [PubMed] [Google Scholar]
  20. HERMANS P. E., GORMAN C. A., MARTIN W. J., KELLY P. J. PSEUDO-PSEUDOHYPOPARATHYROIDISM (ALBRIGHT'S HEREDITARY OSTEODYSTROPHY): A FAMILY STUDY. Mayo Clin Proc. 1964 Feb;39:81–91. [PubMed] [Google Scholar]
  21. Hall J. G. Genomic imprinting: review and relevance to human diseases. Am J Hum Genet. 1990 May;46(5):857–873. [PMC free article] [PubMed] [Google Scholar]
  22. Henkin R. I. Impairment of olfaction and of the tastes of sour and bitter in pseudohypoparathyroidism. J Clin Endocrinol Metab. 1968 May;28(5):624–628. doi: 10.1210/jcem-28-5-624. [DOI] [PubMed] [Google Scholar]
  23. Heutink P., van der Mey A. G., Sandkuijl L. A., van Gils A. P., Bardoel A., Breedveld G. J., van Vliet M., van Ommen G. J., Cornelisse C. J., Oostra B. A. A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. Hum Mol Genet. 1992 Apr;1(1):7–10. doi: 10.1093/hmg/1.1.7. [DOI] [PubMed] [Google Scholar]
  24. Hussels I. E. Midface syndrome with iridochoroidal coloboma and deafness in a mother: microphthalmia in her son. Birth Defects Orig Artic Ser. 1971 Jun;7(7):269–269. [PubMed] [Google Scholar]
  25. Izraeli S., Metzker A., Horev G., Karmi D., Merlob P., Farfel Z. Albright hereditary osteodystrophy with hypothyroidism, normocalcemia, and normal Gs protein activity: a family presenting with congenital osteoma cutis. Am J Med Genet. 1992 Jul 1;43(4):764–767. doi: 10.1002/ajmg.1320430424. [DOI] [PubMed] [Google Scholar]
  26. Johnson W. G. Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive. Am J Hum Genet. 1980 May;32(3):374–386. [PMC free article] [PubMed] [Google Scholar]
  27. Kinard R. E., Walton J. E., Buckwalter J. A. Pseudohypoparathyroidism: report on a family with four affected sisters. Arch Intern Med. 1979 Feb;139(2):204–207. doi: 10.1001/archinte.139.2.204. [DOI] [PubMed] [Google Scholar]
  28. Kozasa T., Itoh H., Tsukamoto T., Kaziro Y. Isolation and characterization of the human Gs alpha gene. Proc Natl Acad Sci U S A. 1988 Apr;85(7):2081–2085. doi: 10.1073/pnas.85.7.2081. [DOI] [PMC free article] [PubMed] [Google Scholar]
  29. Levine M. A., Downs R. W., Jr, Moses A. M., Breslau N. A., Marx S. J., Lasker R. D., Rizzoli R. E., Aurbach G. D., Spiegel A. M. Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein. Am J Med. 1983 Apr;74(4):545–556. doi: 10.1016/0002-9343(83)91008-2. [DOI] [PubMed] [Google Scholar]
  30. Levine M. A., Downs R. W., Jr, Singer M., Marx S. J., Aurbach G. D., Spiegel A. M. Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism. Biochem Biophys Res Commun. 1980 Jun 30;94(4):1319–1324. doi: 10.1016/0006-291x(80)90563-x. [DOI] [PubMed] [Google Scholar]
  31. Levine M. A., Jap T. S., Mauseth R. S., Downs R. W., Spiegel A. M. Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds. J Clin Endocrinol Metab. 1986 Mar;62(3):497–502. doi: 10.1210/jcem-62-3-497. [DOI] [PubMed] [Google Scholar]
  32. MANN J. B., ALTERMAN S., HILLS A. G. Albright's hereditary osteodystrophy comprising pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. With a report of two cases representing the complete syndrome occurring in successive generations. Ann Intern Med. 1962 Feb;56:315–342. doi: 10.7326/0003-4819-56-2-315. [DOI] [PubMed] [Google Scholar]
  33. Myers R. H., Madden J. J., Teague J. L., Falek A. Factors related to onset age of Huntington disease. Am J Hum Genet. 1982 May;34(3):481–488. [PMC free article] [PubMed] [Google Scholar]
  34. PAPAIOANNOU A. C., MATSAS B. E. Albright's herediatary osteodystrophy (without hypocalcemia). (Brachymetacarpal dwarfism without tetany, or pseudo-pseudohypoparathyroidism). Report of a case and review of the literature. Pediatrics. 1963 Apr;31:599–607. [PubMed] [Google Scholar]
  35. Patten J. L., Johns D. R., Valle D., Eil C., Gruppuso P. A., Steele G., Smallwood P. M., Levine M. A. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N Engl J Med. 1990 May 17;322(20):1412–1419. doi: 10.1056/NEJM199005173222002. [DOI] [PubMed] [Google Scholar]
  36. RAY E. W., GARDNER L. I. Pseudo-pseudo-hypoparathyroidism in a child. Pediatrics. 1959 Mar;23(3):520–529. [PubMed] [Google Scholar]
  37. Ritchie G. M. Dental manifestations of pseudohypoparathyroidism. Arch Dis Child. 1965 Oct;40(213):565–572. doi: 10.1136/adc.40.213.565. [DOI] [PMC free article] [PubMed] [Google Scholar]
  38. Schimke R. N., Hartmann W. H., Prout T. E., Rimoin D. L. Syndrome of bilateral pheochromocytoma, medullary thyroid carcinoma and multiple neuromas. A possible regulatory defect in the differentiation of chromaffin tissue. N Engl J Med. 1968 Jul 4;279(1):1–7. doi: 10.1056/NEJM196807042790101. [DOI] [PubMed] [Google Scholar]
  39. Stirling H. F., Barr D. G., Kelnar C. J. Familial growth hormone releasing factor deficiency in pseudopseudohypoparathyroidism. Arch Dis Child. 1991 Apr;66(4):533–535. doi: 10.1136/adc.66.4.533. [DOI] [PMC free article] [PubMed] [Google Scholar]
  40. Stögmann W., Fischer J. A. Pseudohypoparathyroidism. Disappearance of the resistance to parathyroid extract during treatment with vitamin D. Am J Med. 1975 Jul;59(1):140–144. doi: 10.1016/0002-9343(75)90332-0. [DOI] [PubMed] [Google Scholar]
  41. TANZ S. S. Pseudo-pseudohypoparathyroidism: three cases in one family. Am J Med Sci. 1960 Apr;239:453–461. [PubMed] [Google Scholar]
  42. UHR N., BEZAHLER H. B. Pseudo-pseudohypoparathyroidism: report of three cases in one family. Ann Intern Med. 1961 Mar;54:443–451. doi: 10.7326/0003-4819-54-3-443. [DOI] [PubMed] [Google Scholar]
  43. Van Dop C., Bourne H. R., Neer R. M. Father to son transmission of decreased Ns activity in pseudohypoparathyroidism type Ia. J Clin Endocrinol Metab. 1984 Nov;59(5):825–828. doi: 10.1210/jcem-59-5-825. [DOI] [PubMed] [Google Scholar]
  44. Weinberg A. G., Stone R. T. Autosomal dominant inheritance in Albright's hereditary osteodystrophy. J Pediatr. 1971 Dec;79(6):996–999. doi: 10.1016/s0022-3476(71)80196-8. [DOI] [PubMed] [Google Scholar]
  45. Weinstein L. S., Gejman P. V., Friedman E., Kadowaki T., Collins R. M., Gershon E. S., Spiegel A. M. Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc Natl Acad Sci U S A. 1990 Nov;87(21):8287–8290. doi: 10.1073/pnas.87.21.8287. [DOI] [PMC free article] [PubMed] [Google Scholar]
  46. Werder E. A., Fischer J. A., Illig R., Kind H. P., Bernasconi S., Fanconi A., Prader A. Pseudohypoparathyroidism and idiopathic hypoparathyroidism: relationship between serum calcium and parathyroid hormone levels and urinary cyclic adenosine-3',5'-monophosphate response to parathyroid extract. J Clin Endocrinol Metab. 1978 Jun;46(6):872–879. doi: 10.1210/jcem-46-6-872. [DOI] [PubMed] [Google Scholar]
  47. Williams A. J., Wilkinson J. L., Taylor W. H. Pseudohypoparathyroidism. Variable manifestations within a family. Arch Dis Child. 1977 Oct;52(10):798–800. doi: 10.1136/adc.52.10.798. [DOI] [PMC free article] [PubMed] [Google Scholar]
  48. Wolfsdorf J. I., Rosenfield R. L., Fang V. S., Kobayashi R., Razdan A. K., Kim M. H. Partial gonadotrophin-resistance in pseudohypoparathyroidism. Acta Endocrinol (Copenh) 1978 Jun;88(2):321–328. doi: 10.1530/acta.0.0880321. [DOI] [PubMed] [Google Scholar]
  49. Zisman E., Lotz M., Jenkins M. E., Bartter F. C. Studies in pseudohypoparathyroidism. Two new cases with a probable selective deficiency of thyrotropin. Am J Med. 1969 Mar;46(3):464–471. doi: 10.1016/0002-9343(69)90048-5. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES