C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients.
C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients.
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FGFR2基因C278F突变导致两名中国患者出现两种不同类型的颅缝早闭症
DOI：
10.3892/mmr.2017.7248
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发表时间：
2017-10
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;Chen C;Zhu Y;Li T;Liu B;Liu X;Luo L;Jiang H;Li Y;Liang X;Jin C;Huang X;Lu L
本研究的目的是调查成纤维细胞生长因子受体2（FGFR2）基因在两个中国家庭与两种不同形式的综合征颅缝早闭，并描述其相关的临床特征。两个家庭进行了完整的眼科检查，并从每个家庭的两名患者被诊断为颅缝早闭。从这两个家庭的外周血白细胞中提取基因组DNA，并从同一人群中的200名无关受试者作为对照。PCR扩增FGFR 2基因第8、10外显子，直接测序。眼科检查发现两名患者眼眶浅，眼球突出，伴随面中部发育不全和颅缝早闭。例1为视网膜脱离，四肢及手异常，例2为手足正常。在这两名患者中发现了外显子8的杂合FGFR 2错义突变c.833G>T（C278F），但未在未受影响的家庭成员或正常对照中发现。虽然FGFR2基因突变和多态性已在不同的种族群体中进行了研究，我们报告的突变FGFR2在两个不同的中国患者的两种不同类型的综合征颅缝早闭。
The current study was performed with aim to investigate the fibroblast growth factor receptor 2 (FGFR2) gene in two Chinese families with two different forms of syndromic craniosynostosis, and to characterize their associated clinical features. Two families underwent complete ophthalmic examinations, and two patients from each family were diagnosed with craniosynostosis. Genomic DNA was extracted from leukocytes of peripheral blood collected from these two families and from 200 unrelated subjects within the same population as controls. Exons 8 and 10 of the FGFR2 gene were amplified by polymerase chain reaction and directly sequenced. Ophthalmic examinations of the two patients revealed shallow orbits and ocular proptosis, accompanied by midface hypoplasia and craniosynostosis. Case 1 had retinal detachment, abnormal limbs and hands, while case 2 exhibited normal hands and feet upon clinical examination. A heterozygous FGFR2 missense mutation c.833G>T (C278F) in exon 8 was identified in these two patients, but not in unaffected family members or the normal controls. Although FGFR2 gene mutations and polymorphisms have been studied in various ethnic groups, we report a mutation of FGFR2 in two different Chinese patients with two different types of syndromic craniosynostosis.
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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
影响因子：
3.6
作者：
Buchanan, Edward P.;Xue, Amy S.;Hollier, Larry H., Jr.
通讯作者：
Hollier, Larry H., Jr.
影响因子：
5.2
作者：
Lajeunie, E;Heuertz, S;Bonaventure, J
通讯作者：
Bonaventure, J
影响因子：
2.9
作者：
Ratisoontorn, C;Fan, GF;Nah, HD
通讯作者：
Nah, HD