Clinical feature: 

Definition: The disease is cause by mutations or imprinting defects in the GNAS1 gene. The syndrome is characterized by pseudohypoparathyroidism and skeletal abnormalities associated sometimes with mental retardation.

Clinical picture: The clinical symptoms of Albright hereditary osteodystrophy include pseudohypoparathyroidism (renal parathyroid hormone resistance) and disturbances of skeletal development (short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other).
   The imprinting mechanism of this gene brings about that the disease occurs only when it is passed by a mother with mild clinical symptoms or a de novo mutation of the maternal allele.

Literature: 

Weinstein LS et al. (2004) Minireview: GNAS: normal and abnormal functions.
Levine MA et al. (2003) Genetic basis for resistance to parathyroid hormone.
Jabbour SA et al. (2003) Cutaneous manifestations of endocrine disorders: a guide for dermatologists.
Butler MG et al. (2002) Imprinting disorders: non-Mendelian mechanisms affecting growth.
Weinstein LS et al. (2002) Gs(alpha) mutations and imprinting defects in human disease.
Lania A et al. (2001) G protein mutations in endocrine diseases.
Weinstein LS et al. (2001) Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting.
Kaplan FS et al. (2000) Progressive osseous heteroplasia.
Aldred MA et al. (2000) Activating and inactivating mutations in the human GNAS1 gene.
Spiegel AM et al. (2000) G protein defects in signal transduction.
Simon A et al. (2000) Pseudohypoparathyroidism type Ia. Albright hereditary osteodystrophy: a model for research on G protein-coupled receptors and genomic imprinting.
Spiegel AM et al. (1999) Hormone resistance caused by mutations in G proteins and G protein-coupled receptors.
Spiegel AM et al. (1997) Inborn errors of signal transduction: mutations in G proteins and G protein-coupled receptors as a cause of disease.
Spiegel AM et al. (1997) The molecular basis of disorders caused by defects in G proteins.