Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1997 Apr;34(4):287–290. doi: 10.1136/jmg.34.4.287

RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37.

M M Power 1, R S James 1, J C Barber 1, A M Fisher 1, P J Wood 1, B A Leatherdale 1, D E Flanagan 1, E Hatchwell 1
PMCID: PMC1050913  PMID: 9138150

Abstract

Albright hereditary osteodystrophy (AHO) is an autosomal dominant disorder characterised by the presence of brachymetaphalangism, short stature, obesity, and mental retardation. Variable biochemical changes many represent either pseudohypoparathyroidism (PHP) owing to resistance to parathormone (PTH) or pseudopseudohypoparathyroidism (PPHP) with no hormone resistance. In most cases of AHO, reduced levels of Gs alpha have been found and a number of deactivating mutations in the gene for Gs alpha located on chromosome 20q13 have been described. Recently a number of people with an AHO-like phenotype have been reported in whom a deletion of chromosomal region 2q37 has been found in the absence of biochemical abnormalities or a reduction in Gs alpha activity. We present a further female patient with a cytogenetically visible deletion of 2q37, an AHO-like phenotype, and unusual biochemistry suggesting moderate PTH resistance. The vasoactive intestinal peptide receptor (RDCI) has recently been mapped to 2q37 and we propose that this is a candidate gene, hemizygosity of which affects signal transduction and leads to the AHO-like phenotype found in patients with 2q37 deletions.

Full text

PDF
287

Images in this article

288Image
on p.288
288Image
on p.288
289Image
on p.289
289Image
on p.289
289Image
on p.289
289Image
on p.289

Selected References

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

  1. Conrad B., Dewald G., Christensen E., Lopez M., Higgins J., Pierpont M. E. Clinical phenotype associated with terminal 2q37 deletion. Clin Genet. 1995 Sep;48(3):134–139. doi: 10.1111/j.1399-0004.1995.tb04073.x. [DOI] [PubMed] [Google Scholar]
  2. Fisher A. M., Ellis K. H., Browne C. E., Barber J. C., Barker M., Kennedy C. R., Foley H., Patton M. A. Small terminal deletions of the long arm of chromosome 2: two new cases. Am J Med Genet. 1994 Dec 1;53(4):366–369. doi: 10.1002/ajmg.1320530412. [DOI] [PubMed] [Google Scholar]
  3. 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]
  4. Gorski J. L., Cox B. A., Kyine M., Uhlmann W., Glover T. W. Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37). Am J Med Genet. 1989 Mar;32(3):350–352. doi: 10.1002/ajmg.1320320315. [DOI] [PubMed] [Google Scholar]
  5. Gotoh E., Yamagami T., Yamamoto H., Okamoto H. Chromosomal assignment of human VIP/PHM-27 gene to 6q26----q27 region by spot blot hybridization and in situ hybridization. Biochem Int. 1988 Sep;17(3):555–562. [PubMed] [Google Scholar]
  6. Hohmann E. L., Levine L., Tashjian A. H., Jr Vasoactive intestinal peptide stimulates bone resorption via a cyclic adenosine 3',5'-monophosphate-dependent mechanism. Endocrinology. 1983 Apr;112(4):1233–1239. doi: 10.1210/endo-112-4-1233. [DOI] [PubMed] [Google Scholar]
  7. Hudson T. J., Engelstein M., Lee M. K., Ho E. C., Rubenfield M. J., Adams C. P., Housman D. E., Dracopoli N. C. Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms. Genomics. 1992 Jul;13(3):622–629. doi: 10.1016/0888-7543(92)90133-d. [DOI] [PubMed] [Google Scholar]
  8. Libert F., Passage E., Parmentier M., Simons M. J., Vassart G., Mattei M. G. Chromosomal mapping of A1 and A2 adenosine receptors, VIP receptor, and a new subtype of serotonin receptor. Genomics. 1991 Sep;11(1):225–227. doi: 10.1016/0888-7543(91)90125-x. [DOI] [PubMed] [Google Scholar]
  9. Lin S. P., Petty E. M., Gibson L. H., Inserra J., Seashore M. R., Yang-Feng T. L. Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy. Am J Med Genet. 1992 Nov 1;44(4):500–502. doi: 10.1002/ajmg.1320440424. [DOI] [PubMed] [Google Scholar]
  10. Luttikhuis M. E., Wilson L. C., Leonard J. V., Trembath R. C. Characterization of a de novo 43-bp deletion of the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy. Genomics. 1994 May 15;21(2):455–457. doi: 10.1006/geno.1994.1297. [DOI] [PubMed] [Google Scholar]
  11. Murad F. Clinical studies and applications of cyclic nucleotides. Adv Cyclic Nucleotide Res. 1973;3:355–383. [PubMed] [Google Scholar]
  12. Phelan M. C., Rogers R. C., Clarkson K. B., Bowyer F. P., Levine M. A., Estabrooks L. L., Severson M. C., Dobyns W. B. Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals. Am J Med Genet. 1995 Jul 31;58(1):1–7. doi: 10.1002/ajmg.1320580102. [DOI] [PubMed] [Google Scholar]
  13. Sreedharan S. P., Robichon A., Peterson K. E., Goetzl E. J. Cloning and expression of the human vasoactive intestinal peptide receptor. Proc Natl Acad Sci U S A. 1991 Jun 1;88(11):4986–4990. doi: 10.1073/pnas.88.11.4986. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Stratton R. F., Tolworthy J. A., Young R. S. Deletion (2)(q37). Am J Med Genet. 1994 Jun 1;51(2):153–155. doi: 10.1002/ajmg.1320510215. [DOI] [PubMed] [Google Scholar]
  15. Tomlinson S., Hendy G. N., O'Riordan J. H. A simplified assessment of response to parathyroid hormone in hypoparathyroid patients. Lancet. 1976 Jan 10;1(7950):62–64. doi: 10.1016/s0140-6736(76)90152-5. [DOI] [PubMed] [Google Scholar]
  16. Wang T. H., Johnston K., Hsieh C. L., Dennery P. A. Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37). Am J Med Genet. 1994 Feb 15;49(4):399–401. doi: 10.1002/ajmg.1320490410. [DOI] [PubMed] [Google Scholar]
  17. Webber L. M., Garson O. M. Fluorodeoxyuridine synchronization of bone marrow cultures. Cancer Genet Cytogenet. 1983 Feb;8(2):123–132. doi: 10.1016/0165-4608(83)90044-4. [DOI] [PubMed] [Google Scholar]
  18. Wilson L. C., Leverton K., Oude Luttikhuis M. E., Oley C. A., Flint J., Wolstenholme J., Duckett D. P., Barrow M. A., Leonard J. V., Read A. P. Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. Am J Hum Genet. 1995 Feb;56(2):400–407. [PMC free article] [PubMed] [Google Scholar]
  19. Wilson L. C., Trembath R. C. Albright's hereditary osteodystrophy. J Med Genet. 1994 Oct;31(10):779–784. doi: 10.1136/jmg.31.10.779. [DOI] [PMC free article] [PubMed] [Google Scholar]

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

RESOURCES