McCune-Albright syndrome with acromegaly and fibrous dysplasia associated with the GNAS gene mutation identified by sensitive PNA-clamping method.
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.
Imanaka
Mari
M
Division of Endocrinology/Metabolism, Neurology, and Hematology/Oncology, Department of Clinical Molecular Medicine, Kobe University Graduate School of Medicine, Kobe.
Iida
Keiji
K
Nishizawa
Hitoshi
H
Fukuoka
Hidenori
H
Takeno
Ryoko
R
Takahashi
Kentaro
K
Kaji
Hiroshi
H
Takahashi
Yutaka
Y
Okimura
Yasuhiko
Y
Kaji
Hidesuke
H
Imanishi
Yasuo
Y
Chihara
Kazuo
K
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
D002864:Chromogranins; C000717427:FGF23 protein, human; D000089703:Fibroblast Growth Factor-23; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs