Song Huai-Dong, Chen Feng-Ling, Shi Wen-Jing, Wang Shu, Zhang Qun, Hu Ren-Ming, Chen Jia-Lun
Endocrine. 2002 Jul;18(2):121-8. doi: 10.1385/ENDO:18:2:121.
McCune-Albright syndrome (MAS) 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). The mutations have been found in many affected tissues of patients with MAS. Recently, a new missense mutation was detected in a patient with MAS, leading to the substitution of glycine for arginine at amino acid 201 of the Gsalpha gene, whereas no mutations have been reported at other sites in this gene. In the present study, we identified the activating mutations in the gene encoding Gsalpha protein in the osseous lesions of fibrous dysplasia and peripheral blood leukocyte in a 17-yr-old male patient with MAS. In addition, a heterozygous mutation encoding substitution of Arg201 of Gsalpha with His was found. Interestingly, we also found the other two types of mutations within the Gsalpha gene in the patient's affected osseous tissue. One is a combination mutation in the same allele at codons 209 and 210 of the Gsalpha gene, and the other the missense mutation at codon 235.
McCune - Albright综合征（MAS）由胚胎体细胞突变引起，该突变导致信号转导蛋白Gs（Gsα）α亚基第201位氨基酸的精氨酸被组氨酸或半胱氨酸取代。这些突变已在MAS患者的许多受累组织中被发现。最近，在一名MAS患者中检测到一种新的错义突变，导致Gsα基因第201位氨基酸的精氨酸被甘氨酸取代，而该基因的其他位点尚未有突变报道。在本研究中，我们在一名17岁患有MAS的男性患者的骨纤维发育不良骨病变和外周血白细胞中鉴定出编码Gsα蛋白的基因中的激活突变。此外，还发现了一个杂合突变，该突变编码Gsα的第201位精氨酸被组氨酸取代。有趣的是，我们还在患者受累的骨组织中发现了Gsα基因内的其他两种类型的突变。一种是Gsα基因第209和210位密码子在同一等位基因中的组合突变，另一种是第235位密码子的错义突变。
