title: Genetic diagnosis of multiple affected tissues in a patient with McCune-Albright syndrome.
abstract: McCune-Albright syndrome (MAS) is a sporadic disorder characterized by the classic triad of polyostotic fibrous dysplasia, café-au-lait' skin pigmentation, and hyperfunctional endocrinopathy. It is caused by embryonic somatic mutations leading to the substitution of His or Cys for Arg at amino acid 201 of the alpha-subunit of the signal transduction protein Gs (Gsalpha). A 32-year-old man was diagnosed as McCune-Albright syndrome with the following findings: polyostotic fibrous dysplasia, café-au-lait' spots and acromegaly. An ultrasonic examination showed that he had left-pleural effusion, which disappeared after almost a year without special treatment. Genomic DNA was isolated from the peripheral blood, bone tissue, skin lesion and pleura samples of the patient. Then PCR and direct sequencing were performed. An activating mutation of the Gsalpha gene (Arg201Cys) was found in the genomic DNA isolated from the peripheral blood and the bone tissue, but not in genomic DNA isolated from the skin and pleura samples.
authors.affiliation: Department of Endocrinology and Metabolic Diseases, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, 197 Ruijin Er Road, Shanghai, 200025, China.
authors.forename: Ji
authors.initials: J
authors.lastname: Zhou
authors.forename: Li-hao
authors.initials: LH
authors.lastname: Sun
authors.forename: Bin
authors.initials: B
authors.lastname: Cui
authors.forename: Huai-dong
authors.initials: HD
authors.lastname: Song
authors.forename: Xiao-ying
authors.initials: XY
authors.lastname: Li
authors.forename: Guang
authors.initials: G
authors.lastname: Ning
authors.forename: Jian-min
authors.initials: JM
authors.lastname: Liu
mesh_terms: D000172:Acromegaly / Q000150:complications / Q000235:genetics; D000328:Adult; D001483:Base Sequence; D019080:Cafe-au-Lait Spots / Q000150:complications / Q000473:pathology; D004252:DNA Mutational Analysis; D005359:Fibrous Dysplasia, Polyostotic / Q000150:complications / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology*; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D020858:Tissue and Organ Harvesting
chemical_list: D019205:GTP-Binding Protein alpha Subunits, Gs