FGFR2 mutations among Thai children with Crouzon and Apert syndromes
FGFR2 mutations among Thai children with Crouzon and Apert syndromes
复制标题
DOI：
10.1097/00001665-200301000-00019
复制
发表时间：
2003-01-01
影响因子：
0.9
通讯作者：
Tongkobpetch, S
中科院分区：
文献类型：
--
作者：
Shotelersuk, V;Mahatumarat, C;Tongkobpetch, S
据报道，Crouzon和Apert综合征与成纤维细胞生长因子受体2（FGFR 2）基因突变有关，但从未在东南亚受试者中发现。因此，作者对11名泰国患者进行了一项研究：4名Crouzon综合征患者和7名Apert综合征患者。所有病例都是散发的。父亲和母亲的平均年龄分别为38.7岁和28.6岁。在分子水平上，发现所有患者都有FGFR2基因突变。在所有Crouzon患者中检测到三种突变（C278F，S347C，S351C），其中两种具有S351C。7例Apert综合征患者存在S252W或P253R突变。作者的发现，即散发病例与父亲年龄大有关，并且他们都有FGFR2突变，这与以前的报道一致。这是支持FGFR 2突变在Crouzon和Apert综合征中的致病作用的另一个观察结果。
Crouzon and Apert syndromes have been reported to be associated with mutations in Fibroblast Growth Factor Receptor 2 (FGFR2) gene in various ethnic groups, but never in Southeast Asian subjects. Therefore, the authors conducted a study to characterize 11 Thai patients: four with Crouzon syndrome and seven with Apert syndrome. All cases are sporadic. Mean paternal and maternal ages were 38.7 and 28.6 years, respectively. Molecularly, all patients were found to have mutations in the FGFR2 gene. Three mutations (C278F, S347C, S351C) were detected in all Crouzon patients with two having S351C. The seven patients with Apert syndrome have either S252W or P253R mutation. The authors' findings that sporadic cases were associated with advanced paternal age and that they all had mutations in FGFR2 are consistent with previous reports. This is another observation supporting the causative role of FGFR2 mutations in Crouzon and Apert syndromes.