国内首例Costello综合征患儿HRAS基因突变分析  

Mutation analysis of HRAS gene in a Chinese girl with Costello syndrome

作　　者：张寒冰[1] 邱正庆[1] 王薇[1] 赵时敏[1] 仇佳晶[1] 魏珉[1] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院儿科,北京100730

出　　处：《基础医学与临床》2010年第12期1274-1277,共4页Basic and Clinical Medicine

基　　金："十一五"国家科技支撑计划项目(2006BAI05A07);北京市科技计划项目(D0906005040491);北京协和医院临床重点项目基金(IY274101);北京协和医院基础与临床联合公关项目(I274102)

摘　　要：目的通过对1例临床疑似Costello综合征的患者进行HRAS基因分析并确诊。方法提取患者及其父母的基因组DNA,PCR扩增HRAS基因的第2～5个编码外显子并直接测序。Pubmed检索Costello综合征的临床表现、实验室检查和治疗干预方法。结果在HRAS基因第2外显子第34位碱基序列处发现一个已知错义突变c.34G>A,p.Gly12Ser。患者父母DNA未检测到相同突变。结论 Costello综合征是一种罕见的常染色体显性遗传病,患者有特征性面容、极度喂养困难史和生长发育落后等,确诊有赖于HRAS基因突变分析。Objective Diagnose the first case of autosomal dominant Costello syndrome by direct sequencing of HRAS gene.Methods Total genomic DNA was extracted from peripheral blood leukocytes of the patient and her parents.The coding exons 2～5 of the HRAS gene were amplified by polymerase chain reaction（PCR） and sequenced directly.Results A common HRAS missense mutation,p.Gly12Ser,was identified in the patient,but not in the parents.Conclusion Patients with Costello syndrome manifest characteristic facial features,feeding difficulties and developmental delay/mental retardation etc.The diagnosis can be confirmed by mutation analysis of HRAS gene.

关 键 词：Costello综合征 HRAS基因 突变 

分 类 号：R722.11[医药卫生—儿科]