Genetic diagnosis of multiple affected tissues in a patient with McCune-Albright syndrome
Genetic diagnosis of multiple affected tissues in a patient with McCune-Albright syndrome
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DOI：
10.1007/s12020-007-0015-x
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发表时间：
2007-04-01
期刊：
影响因子：
3.7
通讯作者：
Liu, Jian-Min
中科院分区：
文献类型：
--
作者：
Zhou, Ji;Sun, Li-Hao;Liu, Jian-Min
McCune-Albright综合征（MAS）是一种散发性疾病，其特征是多骨纤维异常增殖症、皮肤色素沉着和功能亢进性内分泌病的典型三联征。它是由胚胎体细胞突变引起的，导致在信号转导蛋白Gs（Gs α）的α-亚基的氨基酸201处His或Cys取代Arg。一名32岁的男子被诊断为McCune-Albright综合征，并有以下发现：多骨纤维异常增殖症，'乳房'斑点和肢端肥大症。超声波检查显示，他有左胸腔积液，几乎一年后没有特殊治疗就消失了。从患者的外周血、骨组织、皮肤病变和胸膜样品中分离基因组DNA。然后进行PCR和直接测序。在从外周血和骨组织分离的基因组DNA中发现Gs α基因（Arg 201 Cys）的激活突变，但在从皮肤和胸膜样品分离的基因组DNA中未发现。
McCune-Albright syndrome (MAS) is a sporadic disorder characterized by the classic triad of polyostotic fibrous dysplasia, 'cafe-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 (Gs alpha). A 32-year-old man was diagnosed as McCune-Albright syndrome with the following findings: polyostotic fibrous dysplasia, 'cafe-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 Gs alpha 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.