No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations

Abstract The aim of this study was to investigate if pathogenic copy number variations (CNVs) are present in mosaic form in patients with congenital heart malformations. We have collected cardiac tissue and blood samples from 23 patients with congenital heart malformations that underwent cardiac sur...

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Bibliographic Details
Published in:European journal of medical genetics 2015-03, Vol.58 (3), p.129-133
Main Authors: Winberg, Johanna, Berggren, Håkan, Malm, Torsten, Johansson, Sune, Johansson Ramgren, Jens, Nilsson, Boris, Liedén, Agne, Nordenskjöld, Agneta, Gustavsson, Peter, Nordgren, Ann
Format: Article
Language:English
Subjects:
Array CGH
Cardiac and Cardiovascular Systems
Clinical Medicine
Comparative Genomic Hybridization
Congenital heart malformations
Copy number variation
DNA Copy Number Variations
Female
Heart - physiopathology
Heart Defects, Congenital - diagnosis
Heart Defects, Congenital - genetics
Humans
Infant
Infant, Newborn
Kardiologi
Kirurgi
Klinisk medicin
Male
Medical and Health Sciences
Medical Education
Medicin och hälsovetenskap
Mosaicism
Pediatrics
Pediatrik
Surgery
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Summary:Abstract The aim of this study was to investigate if pathogenic copy number variations (CNVs) are present in mosaic form in patients with congenital heart malformations. We have collected cardiac tissue and blood samples from 23 patients with congenital heart malformations that underwent cardiac surgery and screened for mosaic gene dose alterations restricted to cardiac tissue using array comparative genomic hybridization (array CGH). We did not find evidence of CNVs in mosaic form after array CGH analysis. Pathogenic CNVs that were present in both cardiac tissue and blood were detected in 2/23 patients (9%), and in addition we found several constitutional CNVs of unclear clinical significance. This is the first study investigating mosaicism for CNVs in heart tissue compared to peripheral blood and the results do not indicate that pathogenic mosaic copy number changes are common in patients with heart malformations. Importantly, in line with previous studies, our results show that constitutional pathogenic CNVs are important factors contributing to congenital heart malformations.
ISSN:1769-7212
1878-0849
1878-0849
DOI:10.1016/j.ejmg.2015.01.003