An R201H activating mutation of the GNAS1 (Gsalpha) gene in a corticotroph pituitary adenoma.
In the pituitary gland, activating mutations of the GNAS1 (Gsalpha) gene at Gln227 have been identified in adrenocorticotrophin secreting, growth hormone secreting, and prolactin secreting adenomas. To date, mutations at the codon encoding R201, typically underlying the McCune-Albright syndrome and isolated fibrous dysplasia of bone, have been demonstrated only in growth hormone secreting pituitary adenomas. In this study, a polymerase chain reaction amplified target sequence in exon 8 of the GNAS1 gene was sequenced, identifying the first R201 mutation seen in an isolated basophilic adenoma which generated Cushing's disease in a child. This case adds Cushing's disease to the range of human diseases caused by R201 mutations of the GNAS1 gene.
Riminucci
M
M
Dipartimento di Medicina Sperimentale, Università dell'Aquila, Via Vetoio, Coppito II, 67100 L'Aquila, Roma, Italy.
Collins
M T
MT
Lala
R
R
Corsi
A
A
Matarazzo
P
P
Gehron Robey
P
P
Bianco
P
P
D000237:Adenoma, Basophil / Q000235:genetics*; D002648:Child; D003480:Cushing Syndrome / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense; D015513:Oncogene Proteins / Q000235:genetics; D010911:Pituitary Neoplasms / Q000235:genetics*
D015513:Oncogene Proteins; D019205:GTP-Binding Protein alpha Subunits, Gs