基础医学与临床 ›› 2010, Vol. 30 ›› Issue (12): 1274-1277.

• 研究论文 • 上一篇    下一篇

国内首例Costello 综合征患儿HRAS基因突变分析

张寒冰1,邱正庆1,王薇2,赵时敏2,仇佳晶2,魏珉2   

  1. 1. 中国医学科学院北京协和医学院北京协和医院儿科2. 中国医学科学院 北京协和医学院 北京协和医院
  • 收稿日期:2010-08-23 修回日期:2010-09-19 出版日期:2010-12-05 发布日期:2010-12-05
  • 通讯作者: 邱正庆

Mutation Analysis of HRAS gene in a Chinese girl with Costello Syndrome and literature review

ZHANG Han-bing ,QIU Zheng-qing ,WANG Wei ,ZHAO Shi-min ,QIU Jia-jing ,WEI Min   

  1. PUMC Hospital, CAMS & PUMC
  • Received:2010-08-23 Revised:2010-09-19 Online:2010-12-05 Published:2010-12-05
  • Contact: QIU Zheng-qing

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。

关键词: Costello综合症, HRAS基因, 突变

Abstract: Objective To introduce the rare autosomal dominant Costello Syndrome through literature review after diagnosing the 1st Chinese patient 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.