Apert综合征患儿FGFR2基因突变及临床分析  

FGFR2 gene mutation and clinical phenotype in a Chinese girl with Apert syndrome

作　　者：王艳[1] 郑勇[2] 吴虹林[1] 刘欣[1] 王春枝[1] 何玺玉[1] 

机构地区：[1]北京军区总医院附属八一儿童医院临床遗传学中心北京100700 [2]解放军309医院门诊部,北京100091

出　　处：《临床儿科杂志》2013年第5期447-450,共4页Journal of Clinical Pediatrics

摘　　要：目的研究Apert综合征患儿成纤维细胞生长因子受体2(FGFR2)基因突变及临床特点。方法采集1例Apert综合征患儿及其父母的外周血,提取基因组DNA,应用PCR扩增FGFR2基因第7和第9外显子,对PCR产物进行双向测序检测基因突变。检索PubMed和中国知网数据库中相关文献进行系统分析。结果在患儿FGFR2基因的第7外显子的934碱基发生杂合突变,由C转变为G,导致FGFR2蛋白第252位由丝氨酸变为色氨酸(S252W),患儿父母均未检测到该基因突变。文献检索国内外已报道14例Aperto综合征患儿,其中5例进行FGFR2基因突变分析,4例为S252W突变,1例为外显子IIIb/IIIc之间杂合缺失突变。结论该例Apert综合征患儿由FGFR2基因934 C→G的杂合突变所致。Objectives To explore the clinical phenotype and FGFR2 gene mutation of patients with Apert syndrome. Methods DNA was extracted from peripheral blood samples of a child with Apert syndrome and her parents. The exons 7 and 9 of FGFR2 gene were amplified by PCR using bi-directional sequencing. Systematic analysis of relevant literature from PubMed and CNKI database were conducted. Results A heterozygous 934 C to G mutation in exon 7 of the FGFR2 gene was found in the patient, which resulted in the substitution of serine （S） for tryptophan （W） at position 252 FGFR2 protein. No mutation was de- tected from parents. Fourteen cases with AS have been reported from the searched databases. Mutation analysis ofFGFR2 gene was conducted in 5 patients and 4 of these 5 patients were with S252Wmutation, and one with heterozygous deletion in the linker region between exon IIIb and IIIc. Conclusion This Chinese girl with AS results from the 934 C to G mutation in exon 7 of FGFR2 gene.

关 键 词：APERT综合征 FGFR2基因 突变 

分 类 号：R725[医药卫生—儿科]