新生儿Apert综合征基因分析并文献复习  

A case of Apert syndrome gene mutation and literature review

作　　者：杨玲[1] 朱湘玉[1] 李洁[1] YANG Ling;ZHU Xiang-yu;LI Jie(Department of Gynaecology and Obstetrics,Nanjing Drum Tower Hospital ,Nanjing ,Jiangsu 210008,China)

机构地区：[1]南京鼓楼医院妇产科

出　　处：《中国优生与遗传杂志》2018年第12期107-109,28,F0004,共5页Chinese Journal of Birth Health & Heredity

基　　金：南京临床医学中心(南京妇产及遗传临床医学中心)

摘　　要：目的总结一例新生儿Apert综合征的临床资料及其家系的基因诊断,结合文献复习,探讨该病的特点、临床及产前诊断的方法。方法分析患儿的临床表现、辅助检查及基因诊断,并检索相关文献进行回顾。结果基因检测提示患儿存在成纤维细胞生长因子受体2(fibroblast growth factor receptor 2,FGFR2)基因的第7外显子的杂合突变,导致编码蛋白质第252位密码子的丝氨酸变成色氨酸。文献复习发现近十年国内外结合患儿临床特征及辅助检查诊断Apert综合征34例,其中基因分析明确诊断15?例,大多数患者均为FGFR2基因突变。结论 FGFR2基因c.755C >G突变是该例Apert综合征的致病原因,基因分析可助确诊及产前诊断。Objective:To Summarize a case of newborn Apert syndome(AS)and review related literature,and then study the clinical characteristics,clinical diagnosis and prenatal diagnosis method. Methods:Data of a case AS bornd at Nanjing Drum Tower Hospital in March,2016 was analyzed,and search related literature in PubMed,CINK and Wanfang database. Results:The patient was a newbaby girl. She have a special face that frontal bossing,coronal suture closed,cleft palate deformity and syndactyly of both hand and feet. Tachypnea,vomit massive frothy fluid appears after birth. A heterozygous C to G mutation in exon 7 of the FGFR2 gene was found in the patient and no mutation was detected from parents. Thirty-four cases with AS have been reported from the searched databases in the last ten years. Mutation analysis of FGFR2 gene was conducted in 15 patients. Conlusion:This AS patient results from C to G mutation of FGFR2 gene and gene test can make a definite diagnosis or prenatal diagnosis of such disease.

关 键 词：APERT综合征 颅缝早闭 FGFR2 基因突变 

分 类 号：R726.2[医药卫生—儿科]