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 detected from parents. Fourteen cases with AS have been reported from the searched databases. Mutation analysis of FGFR2 gene was conducted in 5 patients and 4 of these 5 patients were with S252W mutation, 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.%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.
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