High-resolution analysis of copy number variants in adults with simple-to-moderate congenital heart disease

Wei Zhao, Guannan Niu, Botao Shen, Yang Zheng, Fangchao Gong, Xianfu Wang, Jiyun Lee, John J. Mulvihill, Xiaohui Chen, Shibo Li

Research output: Contribution to journalArticlepeer-review

16 Citations (Scopus)


As patients with congenital heart disease (CHD) increasingly survive to childbearing age, it becomes important to understand the genetic origins of CHD. In children, CHD is frequently caused by chromosomal imbalances. We searched for submicroscopic imbalances in adults with CHD focusing on simple-to-moderate phenotypes, without associated dysmorphic features, a group not previously examined. A total of 100 Han Chinese adults with a diverse range of isolated CHD and 65 ethnically matched controls were screened using whole-genome array comparative genomic hybridization. Forty-five large (>100kb) rare copy number variants (CNVs) were identified in 36/100 patients. These variants were not listed in the Database of Genomic Variants nor found in controls. In three of these genomic imbalances (22q11.2, 18q23, 3q21.3), genes that play an important role in cardiac development were implicated, including CRKL, NFATC1, PLXNA1, the latter has not been associated with human CHD before. This study detected a 0.7Mb 22q11.2 deletion, which marginally overlapped the common 3Mb 22q11.2 deletion, in one patient with a perimembranous ventricular septal defect without any extracardiac manifestation. Furthermore, we detected a novel inherited aberration dup (16q23.1). Although a causal relationship with CHD remains to be established, this CNVs profile provides a spectrum of genomic imbalances in this condition, and improves the CNV-phenotype correlations.

Original languageEnglish
Pages (from-to)3087-3094
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Issue number12
Publication statusPublished - 2013 Dec
Externally publishedYes


  • Adult congenital heart disease
  • Array comparative genomic hybridization
  • Copy number variants

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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