Imanaka Mari, Iida Keiji, Nishizawa Hitoshi, Fukuoka Hidenori, Takeno Ryoko, Takahashi Kentaro, Kaji Hiroshi, Takahashi Yutaka, Okimura Yasuhiko, Kaji Hidesuke, Imanishi Yasuo, Chihara Kazuo
Division of Endocrinology/Metabolism, Neurology, and Hematology/Oncology, Department of Clinical Molecular Medicine, Kobe University Graduate School of Medicine, Kobe.
Intern Med. 2007;46(18):1577-83. doi: 10.2169/internalmedicine.46.0048. Epub 2007 Sep 14.
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.
一名16岁女孩被诊断为McCune-Albright综合征，伴有肢端肥大症和骨纤维发育不良。脑部磁共振成像（MRI）显示有垂体瘤。X线片显示骨骼畸形，99锝（99TmO4）骨闪烁显像显示病变骨骼放射性摄取增加。尽管血清成纤维细胞生长因子23（FGF23）水平升高，但血清钙、磷和活性维生素D水平均在正常范围内。通过基于聚合酶链反应（PCR）的传统直接测序分析，在第201位密码子和第227位密码子均未检测到GNAS基因突变。我们进行了肽核酸（PNA）钳夹的选择性PCR以提高基因突变检测的灵敏度，并鉴定出R201C GNAS突变。
