Crouzon综合征患儿及其父母FGFR2基因突变1例分析  

Genetic analysis of FGFR2 gene mutation in a child and his parents with Crouzon syndrome

作　　者：何彦册 鲁萍[1] 段晶[1] 丁臻博[1] 曹佳[1] 徐晓雯 彭姝晗 HE Yance;LU Ping;DUAN Jing;DING Zhenbo;CAO Jia;XU Xiaowen;PENG Shuhan(Department of Pediatrics,First Affiliated Hospital of Kunmimg Medical University,Kunming,Yunnan 650031,China)

机构地区：[1]昆明医科大学第一附属医院儿科,云南昆明650031

出　　处：《中国优生与遗传杂志》2023年第4期781-783,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的 报告1例Crouzon综合征患儿及其父母基因突变结果。方法 收集1例Crouzon综合征患儿的临床资料,并对患儿及其父母行外周血全外显子组测序检测。结果患儿及其母亲的FGFR2基因发生了突变:FGFR2:c.842(exon7)A>G(p.Tyr281Cys),DNA链第842位置上腺嘌呤A变异为鸟嘌呤G,而患儿父亲该位点为正常的腺嘌呤(A)。结论 Crouzon综合征是一种常染色体显性遗传病,FGFR2是其致病基因,本文证实p.Tyr281Cys是其突变基因,可引起Crouzon综合征,该患儿的基因突变源于其母亲。Objective To report the gene mutation results of a child with Crouzon syndrome and his parents.Methods The clinical data of one child with Crouzon syndrome were collected,and peripheral blood exome sequencing was extracted on the child and his parents.Results The patient and his mother had mutations in the FGFR2 gene:FGFR2:c.842(exon7)A>G(p.Tyr281Cys),adenine A mutated to guanine G at the 842 position of the DNA chain,while adenine(A)was normal in his father.Conclusion Crouzon syndrome is an autosomal dominant genetic disease,FGFR2 is pathogenic gene.It was confirmed in this paper that p.Tyr281Cys is a mutation gene,which can cause Crouzon syndrome.The mutation of this child is from his mother.

关 键 词：CROUZON综合征 基因突变 成纤维细胞生长因子受体2 

分 类 号：R725.9[医药卫生—儿科]