(D)ifferences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects

被引：32

作者：

Breckpot, J. ^{[1
]}

Thienpont, B. ^{[1
,4
]}

Gewillig, M. ^{[2
]}

Allegaert, K. ^{[3
]}

Vermeesch, J. R. ^{[1
]}

Devriendt, K. ^{[1
]}

机构：

[1] Univ Hosp Leuven, Ctr Human Genet, Herestraat 49,bus 602, B-3000 Louvain, Belgium

[2] Univ Hosp Leuven, Dept Pediat Cardiol, Leuven, Belgium

[3] Univ Hosp Leuven, Neonatol Unit, Leuven, Belgium

[4] Lab Mol Signalling & Lab Dev Genet & Imprinting, Babraham Res Campus, Cambridge, England

来源：

MOLECULAR SYNDROMOLOGY | 2011年 / 2卷 / 02期

关键词：

Array comparative genomic hybridization; Congenital heart defects; Copy number variation; Monozygotic twins;

D O I：

10.1159/000335284

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Studies addressing the role of somatic copy number variation (CNV) in the genesis of congenital heart defects (CHDs) are scarce, as cardiac tissue is difficult to obtain, especially in non-affected individuals. We explored the occurrence of copy number differences in monozygotic (MZ) twins discordant for the presence of a CHD, as an illustrative model for chromosomal mosaicism in CHDs. Array comparative genomic hybridization was performed on peripheral bloodderived DNA obtained from 6 discordant MZ twin pairs and on sex-matched reference samples. To identify CNV differences between both twin members as well as potential CNVs in both twins contributing to the phenotype, DNA from each twin was hybridized against its co-twin, and against a normal control. Three copy number differences in 1 out of 6 MZ twin pairs were detected, confirming the occurrence of somatic CNV events in MZ twins. Further investigation by copy number and (epi) genome sequencing analyses in MZ twins, discordant for the presence of CHDs, is required to improve our knowledge on how postzygotic genetic, environmental and stochastic factors can affect human heart development. Copyright (C) 2012 S. Karger AG, Basel

引用

页码：81 / 87

页数：7

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