Abstract:

Objective    To investigate the association of CITED2 gene mutation with congenital heart disease（CHD）. Methods    The blood samples were collected from 368 children with sporadic CHD and 200 healthy children from January 2013 to January 2015 at Qilu Children’s Hospital of Shandong University. The genomic DNA was extracted and then the exon regions of CITED2 were amplified and sequenced.The results were compared with GenBank database and then analyzed by amino acid sequences. Results    Four heterozygous mutations were identified in four patients with CHD.Case 1（VSD） was c.399C＞T synonymous mutation （p.His133His） and Case 2 （VSD） was c.574A＞G missense mutation（p.Ser192Gly） located in SGJ region；Case 3 （ASD） was a known SNP site of rs191856368 and Case 4（PDA） was c.287 C＞T missense mutation （p.Ser96Phe）. None of which was detected in the control group.  Conclusion    CITED2 gene Ser192Gly and P.Ser96Phe mutations might be associated with the development of local CHD.

Key words: congenital heart disease, CITED2, gene mutation

摘要：

目的    研究CITED2基因突变与先天性心脏病（CHD）的关系。方法    2013年1月至2015年1月山东大学齐鲁儿童医院收集368例散发型CHD患儿和200名健康儿童血液样本进行DNA抽提， PCR扩增CITED2外显子区， Sanger测序后， 进行GeneBank对比和氨基酸序列分析。结果    发现4例杂合突变。病例1室间隔缺损患儿为c.399C＞T同义突变（p.His133His）； 病例2室间隔缺损患儿为SGJ区c.574A＞G的错义突变（p.Ser192Gly）； 病例3房间隔缺损患儿为已知 SNP位点（rs191856368）； 病例4动脉导管未闭患儿为新发现的错义突变（p.Ser96Phe）。这些突变在对照组中均未检测到。结论    CITED2基因Ser192Gly和p.Ser96Phe突变可能与CHD发生有关。

关键词: 先天性心脏病, CITED2, 基因突变