title: McCune-Albright syndrome with acromegaly and fibrous dysplasia associated with the GNAS gene mutation identified by sensitive PNA-clamping method.
abstract: A 16-year-old girl presented with McCune-Albright syndrome associated with acromegaly and fibrous dysplasia. Brain MRI demonstrated a pituitary tumor. X-ray films showed bone deformities, and 99TmO4 bone scintigraphy revealed increased uptake of radioactivity in the affected bones. Although the serum FGF23 level was increased, the serum calcium, phosphate, and active vitamin D levels were all within normal limits. GNAS gene mutation was detected at neither codon 201 nor 227 by conventional PCR-based direct sequencing analysis. We performed a selective PCR with peptide nucleic acid (PNA) clamping to increase the sensitivity for gene mutation detection and identified the R201C GNAS mutation.
authors: Division of Endocrinology/Metabolism, Neurology, and Hematology/Oncology, Department of Clinical Molecular Medicine, Kobe University Graduate School of Medicine, Kobe.
authors: Mari
authors: M
authors: Imanaka
authors: Keiji
authors: K
authors: Iida
authors: Hitoshi
authors: H
authors: Nishizawa
authors: Hidenori
authors: H
authors: Fukuoka
authors: Ryoko
authors: R
authors: Takeno
authors: Kentaro
authors: K
authors: Takahashi
authors: Hiroshi
authors: H
authors: Kaji
authors: Yutaka
authors: Y
authors: Takahashi
authors: Yasuhiko
authors: Y
authors: Okimura
authors: Hidesuke
authors: H
authors: Kaji
authors: Yasuo
authors: Y
authors: Imanishi
authors: Kazuo
authors: K
authors: Chihara
mesh_terms: D000172:Acromegaly / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D002864:Chromogranins; D005260:Female; D000089703:Fibroblast Growth Factor-23; D005357:Fibrous Dysplasia of Bone / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D005359:Fibrous Dysplasia, Polyostotic / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006801:Humans; D009154:Mutation
chemical_list: D002864:Chromogranins; C000717427:FGF23 protein, human; D000089703:Fibroblast Growth Factor-23; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs