• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

圆锥动脉干型心脏缺陷患儿的拷贝数变异研究。

Investigation of copy number variation in children with conotruncal heart defects.

作者信息

Campos Carla Marques Rondon, Zanardo Evelin Aline, Dutra Roberta Lelis, Kulikowski Leslie Domenici, Kim Chong Ae

机构信息

Universidade Federal de Mato Grosso, Cuiabá, MT, Brazil.

Laboratório de Citogenômica - LIM 03, Departamento de Patologia, Universidade de São Paulo, São Paulo, SP, Brazil.

出版信息

Arq Bras Cardiol. 2015 Jan;104(1):24-31. doi: 10.5935/abc.20140169. Epub 2014 Nov 11.

DOI:10.5935/abc.20140169
PMID:25387403
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4387608/
Abstract

BACKGROUND

Congenital heart defects (CHD) are the most prevalent group of structural abnormalities at birth and one of the main causes of infant morbidity and mortality. Studies have shown a contribution of the copy number variation in the genesis of cardiac malformations.

OBJECTIVES

Investigate gene copy number variation (CNV) in children with conotruncal heart defect.

METHODS

Multiplex ligation-dependent probe amplification (MLPA) was performed in 39 patients with conotruncal heart defect. Clinical and laboratory assessments were conducted in all patients. The parents of the probands who presented abnormal findings were also investigated.

RESULTS

Gene copy number variation was detected in 7/39 patients: 22q11.2 deletion, 22q11.2 duplication, 15q11.2 duplication, 20p12.2 duplication, 19p deletion, 15q and 8p23.2 duplication with 10p12.31 duplication. The clinical characteristics were consistent with those reported in the literature associated with the encountered microdeletion/microduplication. None of these changes was inherited from the parents.

CONCLUSIONS

Our results demonstrate that the technique of MLPA is useful in the investigation of microdeletions and microduplications in conotruncal congenital heart defects. Early diagnosis of the copy number variation in patients with congenital heart defect assists in the prevention of morbidity and decreased mortality in these patients.

摘要

背景

先天性心脏病（CHD）是出生时最常见的结构异常类型，也是婴儿发病和死亡的主要原因之一。研究表明，拷贝数变异在心脏畸形的发生中起作用。

目的

研究圆锥动脉干型心脏缺陷患儿的基因拷贝数变异（CNV）。

方法

对39例圆锥动脉干型心脏缺陷患者进行多重连接依赖探针扩增（MLPA）。对所有患者进行临床和实验室评估。对出现异常结果的先证者的父母也进行了调查。

结果

在39例患者中的7例检测到基因拷贝数变异：22q11.2缺失、22q11.2重复、15q11.2重复、20p12.2重复、19p缺失、15q和8p23.2重复伴10p12.31重复。临床特征与文献报道的与所发现的微缺失/微重复相关的特征一致。这些变化均非遗传自父母。

结论

我们的结果表明，MLPA技术在圆锥动脉干型先天性心脏病的微缺失和微重复研究中是有用的。先天性心脏病患者拷贝数变异的早期诊断有助于预防这些患者的发病并降低死亡率。

相似文献

1
Investigation of copy number variation in children with conotruncal heart defects.圆锥动脉干型心脏缺陷患儿的拷贝数变异研究。
Arq Bras Cardiol. 2015 Jan;104(1):24-31. doi: 10.5935/abc.20140169. Epub 2014 Nov 11.
2
A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease.一种改良的多重连接依赖探针扩增方法用于检测先天性心脏病患者的22q11.2拷贝数变异
BMC Genomics. 2015 May 8;16(1):364. doi: 10.1186/s12864-015-1590-5.
3
Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland.波兰西部先天性心脏病患儿 22q11.2 微缺失的频率。
BMC Pediatr. 2010 Dec 6;10:88. doi: 10.1186/1471-2431-10-88.
4
Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication.对亚速尔群岛圣米格尔岛先天性心脏病患者22q11.2区域的拷贝数变异进行筛查，发现了第二例发生三倍体的患者。
BMC Genet. 2014 Nov 7;15:115. doi: 10.1186/s12863-014-0115-6.
5
Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery.圆锥动脉干型心脏缺陷患儿的22q11.2染色体微缺失：发生率、相关心血管异常及心脏手术后的结局
Eur J Pediatr. 2008 Oct;167(10):1135-40. doi: 10.1007/s00431-007-0645-2. Epub 2008 Jan 3.
6
[Diagnosis of 22q11 deletion and duplication in congenital heart disease by multiplex ligation dependent probe amplification].[应用多重连接依赖探针扩增技术诊断先天性心脏病中的22q11缺失和重复]
Zhongguo Dang Dai Er Ke Za Zhi. 2009 Nov;11(11):892-6.
7
[Analysis of genomic copy number variations in two unrelated neonates with 8p deletion and duplication associated with congenital heart disease].[两例与先天性心脏病相关的 8p 缺失和重复的非亲缘新生儿基因组拷贝数变异分析]
Zhonghua Er Ke Za Zhi. 2014 Jun;52(6):460-3.
8
Incidences of micro-deletion/duplication 22q11.2 detected by multiplex ligation-dependent probe amplification in patients with congenital cardiac disease who are scheduled for cardiac surgery.计划进行心脏手术的先天性心脏病患者中，通过多重连接依赖探针扩增检测到的22q11.2微缺失/重复的发生率。
Cardiol Young. 2009 Apr;19(2):179-84. doi: 10.1017/S1047951109003667. Epub 2009 Feb 19.
9
A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication.RIPPLY3 中的功能丧失突变 p.T52S 是中国汉族非 22q11.2 缺失/重复型圆锥动脉干畸形患者的潜在遗传易感风险因素。
J Transl Med. 2018 Sep 21;16(1):260. doi: 10.1186/s12967-018-1633-1.
10
Analysis of gene copy number variations in patients with congenital heart disease using multiplex ligation-dependent probe amplification.利用多重连接依赖探针扩增技术分析先天性心脏病患者的基因拷贝数变异
Anatol J Cardiol. 2018 Jul;20(1):9-15. doi: 10.14744/AnatolJCardiol.2018.70481.

引用本文的文献

1
22q11 Copy Number Variations in a Brazilian Cohort of Children with Congenital Heart Disorders.巴西先天性心脏病患儿队列中的22q11拷贝数变异
Mol Syndromol. 2023 Feb;14(1):1-10. doi: 10.1159/000525247. Epub 2022 Jul 4.
2
Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease.多系统先天性异常和孤立性先天性心脏病患者的基因分析算法。
Genes (Basel). 2022 Jun 29;13(7):1172. doi: 10.3390/genes13071172.
3
4 Deletions Associated with Congenital Heart Diseases in South Brazil.巴西南部与先天性心脏病相关的4种缺失。
J Pediatr Genet. 2021 Jun;10(2):92-97. doi: 10.1055/s-0040-1714691. Epub 2020 Jul 29.
4
Copy number variations in the GATA4, NKX2-5, TBX5, BMP4 CRELD1, and 22q11.2 gene regions in Chinese children with sporadic congenital heart disease.中国散发性先天性心脏病患儿GATA4、NKX2-5、TBX5、BMP4、CRELD1及22q11.2基因区域的拷贝数变异
J Clin Lab Anal. 2019 Feb;33(2):e22660. doi: 10.1002/jcla.22660. Epub 2018 Sep 17.
5
Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects.阿根廷先天性圆锥动脉干心脏缺陷患者的基因失衡
Genes (Basel). 2018 Sep 11;9(9):454. doi: 10.3390/genes9090454.
6
Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.先天性心脏病的基因组学和表观基因组学：非洲的专家评论和经验教训。
OMICS. 2018 May;22(5):301-321. doi: 10.1089/omi.2018.0033.
7
Identification of ZFPM2 mutations in sporadic conotruncal heart defect patients.散发性圆锥动脉干心脏缺陷患者中ZFPM2突变的鉴定。
Mol Genet Genomics. 2018 Feb;293(1):217-223. doi: 10.1007/s00438-017-1373-6. Epub 2017 Oct 10.
8
Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test.基因组拷贝数变异在综合征性先天性心脏病中的主要贡献：将多重连接依赖探针扩增法用作首个基因检测方法
Mol Syndromol. 2017 Aug;8(5):227-235. doi: 10.1159/000477226. Epub 2017 Jun 14.
9
Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies.阵列比较基因组杂交和基因组测序在先天性异常病因诊断中的应用
J Appl Genet. 2017 May;58(2):185-198. doi: 10.1007/s13353-016-0376-z. Epub 2016 Nov 18.
10
Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.经典内脏反位的拷贝数变异分析突出了身体模式形成通路的重要性。
Hum Genet. 2016 Dec;135(12):1355-1364. doi: 10.1007/s00439-016-1727-x. Epub 2016 Sep 15.

本文引用的文献

1
Biological relevance of CNV calling methods using familial relatedness including monozygotic twins.使用包括同卵双胞胎在内的家族相关性来调用 CNV 的生物学相关性方法。
BMC Bioinformatics. 2014 Apr 21;15:114. doi: 10.1186/1471-2105-15-114.
2
PSCC: sensitive and reliable population-scale copy number variation detection method based on low coverage sequencing.PSCC：基于低覆盖测序的敏感可靠的人群规模拷贝数变异检测方法。
PLoS One. 2014 Jan 21;9(1):e85096. doi: 10.1371/journal.pone.0085096. eCollection 2014.
3
The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.在未经选择的圆锥动脉干畸形或左心发育不良患儿样本中，新发和罕见遗传拷贝数变化对先天性心脏病的贡献。
Hum Genet. 2014 Jan;133(1):11-27. doi: 10.1007/s00439-013-1353-9. Epub 2013 Aug 25.
4
The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation.CNVs 的重要性日益增加：检测和临床解读的新见解。
Front Genet. 2013 May 30;4:92. doi: 10.3389/fgene.2013.00092. eCollection 2013.
5
Identification of functional mutations in GATA4 in patients with congenital heart disease.鉴定先天性心脏病患者中 GATA4 的功能突变。
PLoS One. 2013 Apr 23;8(4):e62138. doi: 10.1371/journal.pone.0062138. Print 2013.
6
Conotruncal anomalies in the fetus: Referral patterns and pregnancy outcomes in a dedicated fetal cardiology unit in South India.胎儿圆锥动脉干异常：印度南部一家专业胎儿心脏病科的转诊模式及妊娠结局
Ann Pediatr Cardiol. 2013 Jan;6(1):15-20. doi: 10.4103/0974-2069.107227.
7
Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes.简单、快速、廉价的定量荧光 PCR 方法用于检测微缺失和微重复综合征。
PLoS One. 2013 Apr 19;8(4):e61328. doi: 10.1371/journal.pone.0061328. Print 2013.
8
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.全球罕见拷贝数变异对散发性先天性心脏病风险的贡献。
Am J Hum Genet. 2012 Sep 7;91(3):489-501. doi: 10.1016/j.ajhg.2012.08.003. Epub 2012 Aug 30.
9
Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.罕见的拷贝数变异在法洛四联症成人患者中提示新的风险基因途径。
PLoS Genet. 2012;8(8):e1002843. doi: 10.1371/journal.pgen.1002843. Epub 2012 Aug 9.
10
New Genetic Insights into Congenital Heart Disease.先天性心脏病的新遗传学见解
J Clin Exp Cardiolog. 2012 Jun 15;S8. doi: 10.4172/2155-9880.S8-003.