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

Journal of Medical Genetics

Volumn 34, Issue 4, 1997, Pages 287-290

  Power, Monica M ^a   James, Rowena S ^a   Barber, John C K ^a   Fisher, Andrew M ^a   Wood, Peter J ^b   Leatherdale, Brian A ^c   Flanagan, Daniel E H ^c   Hatchwell, Eli ^d  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^b SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^c ROYAL SOUTH HANTS HOSPITAL   (United Kingdom)

^d PRINCESS ANNE HOSPITAL   (United Kingdom)

Author keywords

2q deletion; Albright; RDCI

Indexed keywords

PARATHYROID HORMONE; VASOACTIVE INTESTINAL POLYPEPTIDE RECEPTOR;

ADULT; ALBRIGHT SYNDROME; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BIOCHEMISTRY; CASE REPORT; CHROMOSOME 2Q; CYTOGENETICS; FEMALE; GENE MUTATION; HORMONE RESISTANCE; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MENTAL DEFICIENCY; OBESITY; OSTEODYSTROPHY; PHENOTYPE; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; PSEUDOPSEUDOHYPOPARATHYROIDISM; SHORT STATURE; SIGNAL TRANSDUCTION;

EID: 0030916590     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.4.287     Document Type: Article

References (11)

1. Albright F, Burnett CH, Parson W. Pseudohypoparathyroidism: an example of "Seabright-Bantam syndrome". Endocrinology 1942;30:922-32.
2. Albright F, Forbes AP, Henneman PH. Pseudo-pseudohypoparathyroidism. Trans Assoc Am Physicians 1952;65:337-50.
3. Oude Luttikhuis MEM, Wilson LC, Leonard JV, Trembath RC. Characterisation of a de novo 43-bp deletion of the GSα gene (GNAS1) in Albright hereditary osteodystrophy. Genomics 1994;21:455-7.
4. Phelan MC, Curtis Rogers R, Clarkson KB, et al. Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals. Am J Med Genet 1995;58:1-7.
5. Wilson LC, Leverton K, Oude Luttikhuis MEM, et al. Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localised to 2q37. Am J Hum Genet 1995;56:400-7.
6. Haag M, Gilfillan T, Berry R, et al. Microdeletion in chromosome 2qter in two unrelated children with characteristic facies and mental retardation. Am J Hum Genet 1993;53:A1571.
7. Weber LM, Garson OM. Fluorodeoxyuridine synchronization of bone marrow cultures. Cancer Genet Cytogenet 1983;8:123-32.
8. Hudson TJ, Engelstein M, Lee MK, et al. Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms. Genomics 1992;13:622-9.
9. Murad F. Clinical studies and applications or cyclic nucleotides. In: Robinson GA, ed. Advances in cyclic nucleotide research. New York: Raven Press, 1973:355.
10. Tomlinson S, Hendy GN, O'Riordan JLH. A simplified assessment of response to PTH in hypoparathyroid patients. Lancet 1976;i:62-4.
11. Wilson LC, Trembath RC. Albright hereditary osteodystrophy. J Med Genet 1994;31:779-84.