Research progress on gene copy number variations in the simple congenital heart defects

doi:10.11852/zgetbjzz2017-25-11-15

journal1 ›› 2017, Vol. 25 ›› Issue (11): 1134-1137.DOI: 10.11852/zgetbjzz2017-25-11-15

Previous Articles Next Articles

Research progress on gene copy number variations in the simple congenital heart defects

LI Jing¹,WANG Yan-xia¹,MAO Bao-hong¹,PEI Jian-ying¹,LIN Xiao-juan²

1 Maternal and Child Health Research Center;
2 Prenatal Diagnosis Center, Gansu Provincial Maternity and Child-care Hospital,Lanzhou,Gansu 730050,China

Received:2017-02-19 Online:2017-11-10 Published:2017-11-10
Contact: LIN Xiao-juan,E-mail:jxlinmail@163.com

基因组拷贝数变异在单纯性先天性心脏病中的研究进展

李静¹,王燕侠¹,毛宝宏¹,裴建赢¹,林晓娟²

甘肃省妇幼保健院 1 妇幼保健科研中心; 2 产前诊断中心,甘肃兰州 730050

通讯作者: 林晓娟,E-mail:jxlinmail@163.com
作者简介:李静(1983-),女,主治医师,硕士学位,主要研究方向为遗传诊断与咨询。
基金资助:
甘肃省科学技术厅自然科学基金(1606RJZA171)

Abstract

Abstract: Congenital heart defects (CHDs) are the most common birth defects in China,whose underlying etiologies of disease remain unknow.More recently,research investigations and clinical diagnostic testing indicated that copy number variations (CNVs) have emerged as an important contributor to congenital genetic disorders,which accounts for approximately 3%~10 % in simple CHDs.However,the full impact of copy number variations (CNVs) as a genetic mechanism in CHDs is not known with certainty.So the research progress of the relationship between CNVs and simple CHDs were summarized in this paper.

Key words: congenital heart defects, gene copy number variations, gene diagnosis

摘要： 先天性心脏病(CHDs)是我国最常见的一种出生缺陷,其潜在的病因至今未明。近年来,一些科学研究和临床诊断试验表明基因拷贝数变异(CNVs)已成为先天性遗传性疾病的一个重要因素,例如该病因在单纯性先心病中约占3%~10%。然而,拷贝数变异在单纯性CHDs形成中的遗传机制尚不明确。因此本文就CNVs与单纯性CHDs关系的研究进展作一综述。

关键词: 先天性心脏病, 基因拷贝数变异, 基因诊断

CLC Number:

R179

LI Jing,WANG Yan-xia,MAO Bao-hong,PEI Jian-ying,LIN Xiao-juan. Research progress on gene copy number variations in the simple congenital heart defects[J]. journal1, 2017, 25(11): 1134-1137.

李静,王燕侠,毛宝宏,裴建赢,林晓娟. 基因组拷贝数变异在单纯性先天性心脏病中的研究进展[J]. 中国儿童保健杂志, 2017, 25(11): 1134-1137.

0
/ / Recommend

Add to citation manager EndNote|Ris|BibTeX

URL: https://manu41.magtech.com.cn/Jwk_zgetbjzz/EN/10.11852/zgetbjzz2017-25-11-15

https://manu41.magtech.com.cn/Jwk_zgetbjzz/EN/Y2017/V25/I11/1134

References

[1] Vvan der Bom.The changing epidemiology of congenital heart disease[J].Nat Rev Cardiol,2011,8(1):50-60.
[2] Zhao QM,Ma XJ,Ge XL,et al.Pulse oximetry with clinical assessment to screen for congenital heart disease in neonates in China:a prospective study[J].Lancet,2014,384(9945):747-754.
[3] Hartman RJ,Rasmussen SA,Botto LD,et al.The contribution of chromosomal abnormalities to congenital heart defects:a population-based study[J].Pediatr Cardiol,2011,32(8):1147-1157.
[4] Iafrate AJ,Feuk T,Puymbroeck LV,et al.Detection of large-scale variation in the human genome[C].Meeting of the Association-For-Molecular-Pathology.2004:411-411.
[5] Jonathan S,Lakshmi B,Jennifer T,et al.Large-scale copy number polymorphism in the human genome[J].Science,2004,305(3):525-528.
[6] Conrad DF,Pinto D,Redon R,et al.Origins and functional impact of copy number variation in the human genome[J].Nature,2010,464(7289):704.
[7] Fahed AC,Gelb BD,Seidman JG,et al.Genetics of congenital heart disease:the glass half empty[J].Curr Cardiol Rev,2013,112(4):707-720.
[8] Zhang F,Gu W,Hurles ME,et al.Copy number variation in human health,disease,and evolution[M]// Genomic Elements in Health,Disease and Evolution.Springer New York,2015:451.
[9] Yakir B.Copy number variations[M]//Extremes in Random Fields:A Theory and its Applications.John Wiley & Sons,Ltd,2013:125-141.
[10] Jansen FA,Blumenfeld YJ,Fisher A,et al.Array comparative genomic hybridization and fetal congenital heart defects-A systematic review and meta-analysis[J].Ultrasound Obstet Gynecol,2015,45(1):27-35.
[11] Southard AE,Edelmann LJ,Gelb BD.Role of copy number variants in structural birth defects[J].Pediatrics,2012,129(4):755-763.
[12] Jongbloed JD,Pósafalvi A,Kerstjensfrederikse WS,et al.New clinical molecular diagnostic methods for congenital and inherited heart disease[J].Expert Opin Med Diagn,2011,5(1):9-24.
[13] Lander J,Ware SM.Copy number variation in congenital heart defects[J].Curr Genet Med Rep,2014,2(3):168-178.
[14] Erdogan F,Larsen LA,Zhang L,et al.High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease[J].J Med Genet,2008,45(11):704-709.
[15] Greenway SC,Pereira AC,Lin JC,et al.De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot[J].Nat Genet,2009,41(8):931-935.
[16] Soemedi R,Wilson IJ,Bentham J,et al.Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease[J].Am J Hum Genet,2012,91(3):489-501.
[17] Zhao W,Niu G,Shen B,et al.High-resolution analysis of copy number variants in adults with simple-to-moderate congenital heart disease[J].Am J Med Genet A,2013,161(12):3087-3094.
[18] Xie L,Chen JL,Zhang WZ,et al.Rare de novo copy number variants in patients with congenital pulmonary atresia[J].Plos One,2014,9(5):e96471.
[19] Costain G,Lionel AC,Ogura L,et al.Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries[J].Int J Cardiol,2015,204:115-121.
[20] Moosmann J,Uebe S,Dittrich S,et al.Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases[J].Plos One,2015,10(5):e0126873.
[21] An Y,Duan W,Huang G,et al.Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population[J].BMC Med Genomics,2016,9(1):2.
[22] Filges I,Suda L,Weber P,et al.High resolution array in the clinical approach to chromosomal phenotypes[J].Gene,2012,495(2):163-169.

Research progress on gene copy number variations in the simple congenital heart defects

基因组拷贝数变异在单纯性先天性心脏病中的研究进展

PDF

Knowledge

Abstract

Cite this article

share this article

References

Related Articles 3

Recommended Articles

Metrics

[1]	ZHANG Jin, SHANG Cong, LI Shuo, ZHANG Li-qin. Clinical features and literature review of Wolf-Hirschhorn syndrome with main manifestation of growth retardation [J]. journal1, 2018, 26(5): 540-543.
[2]	YAO Hai-li,YAN Dong-yong,SUN Xue-qin,YE Ming,SUN Jin-qiao,WANG Xiao-chuan. Comparison study of neuropsychological development between 22q11.2 deletion syndrome and congenital heat disease in early childhood [J]. journal1, 2017, 25(3): 290-292.
[3]	CHEN Hong-ying,ZOU Yan,LIU Chun-yan,LIU Wen-jun. Biochemical screening and genetic diagnosis of thalassemia in children with anemia from Luzhou [J]. journal1, 2013, 21(11): 1139-1141.