Microdeletion and microduplication analysis of chinese conotruncal defects patients with targeted array comparative genomic hybridization

PLoS One. 2013 Oct 2;8(10):e76314. doi: 10.1371/journal.pone.0076314. eCollection 2013.

Abstract

Objective: The current study aimed to develop a reliable targeted array comparative genomic hybridization (aCGH) to detect microdeletions and microduplications in congenital conotruncal defects (CTDs), especially on 22q11.2 region, and for some other chromosomal aberrations, such as 5p15-5p, 7q11.23 and 4p16.3.

Methods: Twenty-seven patients with CTDs, including 12 pulmonary atresia (PA), 10 double-outlet right ventricle (DORV), 3 transposition of great arteries (TGA), 1 tetralogy of Fallot (TOF) and one ventricular septal defect (VSD), were enrolled in this study and screened for pathogenic copy number variations (CNVs), using Agilent 8 x 15K targeted aCGH. Real-time quantitative polymerase chain reaction (qPCR) was performed to test the molecular results of targeted aCGH.

Results: Four of 27 patients (14.8%) had 22q11.2 CNVs, 1 microdeletion and 3 microduplications. qPCR test confirmed the microdeletion and microduplication detected by the targeted aCGH.

Conclusion: Chromosomal abnormalities were a well-known cause of multiple congenital anomalies (MCA). This aCGH using arrays with high-density coverage in the targeted regions can detect genomic imbalances including 22q11.2 and other 10 kinds CNVs effectively and quickly. This approach has the potential to be applied to detect aneuploidy and common microdeletion/microduplication syndromes on a single microarray.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People
  • China
  • Chromosome Aberrations
  • Chromosome Deletion*
  • Chromosome Duplication*
  • Comparative Genomic Hybridization* / methods
  • Female
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics*
  • Humans
  • Male
  • Nucleic Acid Amplification Techniques / methods
  • Phenotype
  • Real-Time Polymerase Chain Reaction / methods

Supplementary concepts

  • Conotruncal cardiac defects

Grants and funding

This work was partly supported by the grants from Health industry special funds for Public Benefit Research Foundation from the Ministry of Health, People’s Republic of China (201002013), the National Science Fund of China (81270712), Program of Shanghai Subject Chief Scientist (12XD1401300), Program of Shanghai Leading Talent (2012), Shanghai Municipal Health Bureau (12GWZX0301), National Key Basic Research Plan of China (973 Plan) (2010CB529500), the Shanghai Key Laboratory of Female Reproductive Endocrine-Related Diseases, and the Key Specialty Project of the Ministry of Health, People's Republic of China, and 863 Program (2012AA02A515), the 973 Program (2010CB529600), the National Key Technology R&D Program (2012BAI01B09), the National Nature Science Foundation of China (81121001, 81273596, J1210047, 30900799, 30972823), the Shanghai Municipal Commission of Science and Technology Program (11DZ1950300, 09DJ1400601), the Public Health Key Disciplines in Shanghai-Health Microbiology（12GWZX0801）, Public Science and Technology Research Funds (201210056), the Shanghai Jiaotong University Interdisciplinary Research fund, and the Shanghai Leading Academic Discipline Project (B205). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.