Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals
- Greenwood Genetic Center, Greenwood, SC (United States); and others
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 (G{sub s} protein) that stimulates adenylyl cyclase. The gene encoding the a subunit of the G{sub s} 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. 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. 44 refs., 7 figs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 441150
- Journal Information:
- American Journal of Medical Genetics, Vol. 58, Issue 1; Other Information: PBD: 31 Jul 1995
- Country of Publication:
- United States
- Language:
- English
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