[两个中国Crouzon综合征家系的FGFR2基因突变分析]
[Analysis of FGFR2 gene mutations in two Chinese families with Crouzon syndrome].
作者信息
Huang Yanru, Mei Libin, Su Wei, Yang Pu, Liang Desheng, Wu Lingqian, Pan Qian
机构信息
State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, P. R. China. Email:
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Jun;31(3):272-5. doi: 10.3760/cma.j.issn.1003-9406.2014.03.003.
OBJECTIVE
To detect potential mutations of fibroblast growth factor receptor 2 gene (FGFR2) in two Chinese families with Crouzon syndrome.
METHODS
Genomic DNA was extracted from peripheral blood leukocytes of 20 members from two affected families. All of the 18 exons of the FGFR2 gene were amplified with polymerase chain reaction and sequenced after purification.
RESULTS
A missense mutation c.868T>C (p.W290R) in exon 8 of the FGFR2 gene was found solely in 2 affected members from family 1. Another missense mutation c.833G>T (p.C278F) in exon 8 was found solely in 5 affected members of family 2.
CONCLUSION
The missense mutations of the FGFR2 gene are responsible for the Crouzon syndrome in the two families. The c.868T>C missense mutation is reported for the first time in Chinese population.
目的
检测两个患有克鲁宗综合征的中国家庭中成纤维细胞生长因子受体2基因（FGFR2）的潜在突变。
方法
从两个患病家庭的20名成员的外周血白细胞中提取基因组DNA。用聚合酶链反应扩增FGFR2基因的所有18个外显子，并在纯化后进行测序。
结果
仅在家庭1的2名患病成员中发现FGFR2基因第8外显子的错义突变c.868T>C（p.W290R）。在家庭2的5名患病成员中仅发现第8外显子的另一个错义突变c.833G>T（p.C278F）。
结论
FGFR2基因的错义突变是这两个家庭中克鲁宗综合征的病因。错义突变c.868T>C在中国人群中首次报道。
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