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No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations. 2015

Johanna Winberg, and Håkan Berggren, and Torsten Malm, and Sune Johansson, and Jens Johansson Ramgren, and Boris Nilsson, and Agne Liedén, and Agneta Nordenskjöld, and Peter Gustavsson, and Ann Nordgren
Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden. Electronic address: johanna.winberg@ki.se.

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.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D005260 Female Females
D006321 Heart The hollow, muscular organ that maintains the circulation of the blood. Hearts
D006330 Heart Defects, Congenital Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life. Congenital Heart Disease,Heart Abnormalities,Abnormality, Heart,Congenital Heart Defect,Congenital Heart Defects,Defects, Congenital Heart,Heart Defect, Congenital,Heart, Malformation Of,Congenital Heart Diseases,Defect, Congenital Heart,Disease, Congenital Heart,Heart Abnormality,Heart Disease, Congenital,Malformation Of Heart,Malformation Of Hearts
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D055028 Comparative Genomic Hybridization A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations. Array Comparative Genomic Hybridization,Array-Based Comparative Genomic Hybridization,Comparative Genome Hybridization,Array Based Comparative Genomic Hybridization,Comparative Genome Hybridizations,Comparative Genomic Hybridizations,Genome Hybridization, Comparative,Genome Hybridizations, Comparative,Genomic Hybridization, Comparative,Genomic Hybridizations, Comparative,Hybridization, Comparative Genome,Hybridization, Comparative Genomic,Hybridizations, Comparative Genome,Hybridizations, Comparative Genomic
D056915 DNA Copy Number Variations Stretches of genomic DNA that exist in different multiples between individuals. Many copy number variations have been associated with susceptibility or resistance to disease. Copy Number Polymorphism,DNA Copy Number Variant,Copy Number Changes, DNA,Copy Number Polymorphisms,Copy Number Variants, DNA,Copy Number Variation, DNA,DNA Copy Number Change,DNA Copy Number Changes,DNA Copy Number Polymorphism,DNA Copy Number Polymorphisms,DNA Copy Number Variants,DNA Copy Number Variation,Polymorphism, Copy Number,Polymorphisms, Copy Number

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