Advanced

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

Winberg, Johanna; Berggren, Håkan; Malm, Torsten LU ; Johansson, Sune LU ; Johansson, Jens LU ; Nilsson, Boris; Liedén, Agne; Nordenskjöld, Agneta; Gustavsson, Peter and Nordgren, Ann (2015) In European Journal of Medical Genetics 58(3). p.129-133
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... (More)
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. (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
European Journal of Medical Genetics
volume
58
issue
3
pages
129 - 133
publisher
Elsevier
external identifiers
  • pmid:25652018
  • wos:000350228700002
  • scopus:84924571814
ISSN
1769-7212
DOI
10.1016/j.ejmg.2015.01.003
language
English
LU publication?
yes
id
832ab424-8dff-49ca-989d-d6138900fe3d (old id 5145465)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/25652018?dopt=Abstract
date added to LUP
2015-03-04 15:19:45
date last changed
2017-04-02 03:15:30
@article{832ab424-8dff-49ca-989d-d6138900fe3d,
  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.},
  author       = {Winberg, Johanna and Berggren, Håkan and Malm, Torsten and Johansson, Sune and Johansson, Jens and Nilsson, Boris and Liedén, Agne and Nordenskjöld, Agneta and Gustavsson, Peter and Nordgren, Ann},
  issn         = {1769-7212},
  language     = {eng},
  number       = {3},
  pages        = {129--133},
  publisher    = {Elsevier},
  series       = {European Journal of Medical Genetics},
  title        = {No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations.},
  url          = {http://dx.doi.org/10.1016/j.ejmg.2015.01.003},
  volume       = {58},
  year         = {2015},
}