FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.
FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.
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两名中国克鲁松综合征患者的 FGFR2 突变及相关临床观察
DOI：
10.3892/mmr.2017.7397
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发表时间：
2017-11
影响因子：
3.4
通讯作者：
Lu L
中科院分区：
文献类型：
--
作者：
Lin Y;Gao H;Ai S;Eswarakumar JVP;Zhu Y;Chen C;Li T;Liu B;Jiang H;Liu Y;Li Y;Wu Q;Li H;Liang X;Jin C;Huang X;Lu L
本研究的目的是确定Crouzon综合征患者成纤维细胞生长因子受体2（FGFR 2）基因的突变，并描述相关的临床特征。共有2例确诊为Crouzon综合征的中国患者接受了完整的检查，包括最佳矫正视力、裂隙灯检查、眼底检查、光学相干断层扫描和颅骨计算机断层扫描。从患者及其家庭成员和来自同一人群的200名无关对照受试者的外周血样本中提取基因组DNA。PCR扩增FGFR 2基因第8、10外显子，直接测序。患者#1在FGFR 2的外显子10中具有杂合错义突变（c.1025G>A，p.C342Y）。患者#2在内含子10中具有杂合突变（c.1084+ 1G>T; IVS 10 +1G>T）。突变不存在于任何未受影响的家庭成员或无关的对照受试者中。这些发现扩大了FGFR 2的突变谱，除了产前诊断Crouzon综合征患者的遗传咨询是有价值的。
The aim of the present study was to identify mutations in the fibroblast growth factor receptor 2 (FGFR2) gene in patients with Crouzon syndrome and characterize the associated clinical features. A total of two Chinese patients diagnosed with Crouzon syndrome underwent complete examinations, including best-corrected visual acuity, slit-lamp, examination, fundus examination, optical coherence tomography and computed tomography of the skull. Genomic DNA was extracted from peripheral blood samples collected from the patients, as well as their family members and 200 unrelated control subjects from the same population. Exons 8 and 10 in the FGFR2 gene were amplified by polymerase chain reaction and directly sequenced. Patient #1 had a heterozygous missense mutation (c.1025G>A, p.C342Y) in exon 10 of FGFR2. Patient #2 had a heterozygous mutation (c.1084+1 G>T; IVS10+1G>T) in intron 10. The mutations were not present in any of the unaffected family members or unrelated control subjects. These findings expand the mutation spectrum of FGFR2, and are valuable for genetic counseling in addition to prenatal diagnosis in patients with Crouzon syndrome.
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影响因子：
0.5
作者：
Barik M;Bajpai M;Malhotra A;Samantaray JC;Dwivedi S;Das S
通讯作者：
Das S
影响因子：
3.5
作者：
GORRY, MC;PRESTON, RA;EHRLICH, GD
通讯作者：
EHRLICH, GD
FGFR2 中的 C342R 突变会导致伴有肘部畸形的克鲁松综合征。
影响因子：
0.9
作者：
Ke, Ronghu;Yang, Xianxian;Mu, Xiongzheng
通讯作者：
Mu, Xiongzheng
Pfeiffer 和 Crouzon 综合征（FGFR2 相关性颅缝早闭）患者 FGFR2 基因突变的聚集
DOI：
10.1159/000056833
发表时间：
2000-01-01
期刊：
CYTOGENETICS AND CELL GENETICS
影响因子：
--
作者：
Kress, W;Collmann, H;Mueller, CR
通讯作者：
Mueller, CR
DOI：
10.1073/pnas.95.8.4567
发表时间：
1998-04-14
影响因子：
11.1
作者：
Robertson, SC;Meyer, AN;Donoghue, DJ
通讯作者：
Donoghue, DJ