Document Detail

Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals.
MedLine Citation:
PMID:  7573148     Owner:  NLM     Status:  MEDLINE    
Albright hereditary osteodystrophy (AHO) is a condition with characteristic physical findings (short stature, obesity, round face, brachydactyly) but variable biochemical changes (pseudohypoparathyroidism, pseudopseudohypoparathyroidism). Most patients with AHO have decreased activity of the guanine nucleotide-binding protein (GS protein) that stimulates adenylyl cyclase. The gene encoding the alpha subunit of the GS protein (GNAS1) has been mapped to the long arm of chromosome 20. We describe 4 unrelated individuals with apparent AHO, associated with small terminal deletions of chromosome 2. All 4 patients had normal serum calcium levels consistent with pseudopseudohypoparathyroidism. Del(2) (q37) is the first consistent karyotypic abnormality that has been documented in AHO [Phelan et al., 1993: Am J Hum Genet 53:484]. The finding of the same small terminal deletion in 4 unrelated individuals with a similar phenotype suggests that a gene locus in the 2q37 region is important in the pathogenesis of Albright syndrome. The association of Albright syndrome and the GNAS1 locus on chromosome 20 is well documented. The observation of a second potential disease locus on chromosome 2 may help explain the heterogeneity observed in this disorder.
M C Phelan; R C Rogers; K B Clarkson; F P Bowyer; M A Levine; L L Estabrooks; M C Severson; W B Dobyns
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics     Volume:  58     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1995 Jul 
Date Detail:
Created Date:  1995-11-20     Completed Date:  1995-11-20     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1-7     Citation Subset:  IM    
Greenwood Genetic Center, South Carolina, USA.
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MeSH Terms
Calcium / blood
Chromosome Deletion*
Chromosome Mapping
Chromosomes, Human, Pair 2*
Fibrous Dysplasia, Polyostotic / genetics*,  radiography
Pseudopseudohypoparathyroidism / genetics*
Grant Support
Reg. No./Substance:

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