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

LI Jing; WANG Yan-xia; MAO Bao-hong; PEI Jian-ying; LIN Xiao-juan

doi:10.11852/zgetbjzz2017-25-11-15

PDF(527 KB)

Chinese Journal of Child Health Care ›› 2017, Vol. 25 ›› Issue (11) : 1134-1137. DOI: 10.11852/zgetbjzz2017-25-11-15

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

Author information +

History +

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

Cite this article

EndNote

Ris (Procite)

Bibtex

Download Citations

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]. Chinese Journal of Child Health Care. 2017, 25(11): 1134-1137 https://doi.org/10.11852/zgetbjzz2017-25-11-15

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.