Microdeletion and Microduplication Analysis of Chinese Conotruncal Defects Patients with Targeted Array Comparative Genomic Hybridization

Overview

Journal PLoS One

Specialties General Medicine
Science

Date 2013 Oct 8

PMID 24098474

Citations 4

Authors

Xiaohui Gong

Xi Wu

Xiaojing Ma

Dandan Wu

Ting Zhang

Li He

Shengying Qin

Xiaotian Li

Affiliations

Soon will be listed here.

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.

Citing Articles

Circulating mRNA in Maternal Plasma at the Second Trimester of Pregnancy: A Possible Screening Tool for Cardiac Conotruncal and Left Ventricular Outflow Tract Abnormalities.

Contro E, Stefani L, Berto S, Lapucci C, Arcelli D, Prandstraller D Mol Diagn Ther. 2017; 21(6):653-661.

PMID: 28744745 DOI: 10.1007/s40291-017-0295-7.

DGCR6 at the proximal part of the DiGeorge critical region is involved in conotruncal heart defects.

Gao W, Higaki T, Eguchi-Ishimae M, Iwabuki H, Wu Z, Yamamoto E Hum Genome Var. 2016; 2:15004.

PMID: 27081520 PMC: 4785558. DOI: 10.1038/hgv.2015.4.

Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects.

de Souza K, Mergener R, Huber J, Pellanda L, Riegel M Biomed Res Int. 2015; 2015:401941.

PMID: 26137477 PMC: 4475533. DOI: 10.1155/2015/401941.

PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome.

Zhao C, Peng L, Li L, Liu X, Wang J, Zhang X PLoS One. 2015; 10(4):e0124409.

PMID: 25893250 PMC: 4404345. DOI: 10.1371/journal.pone.0124409.

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