scholarly journals Copy number variations in the GATA4 , NKX2-5 , TBX5 , BMP4 CRELD1 , and 22q11.2 gene regions in Chinese children with sporadic congenital heart disease

2018 ◽  
Vol 33 (2) ◽  
pp. e22660 ◽  
Author(s):  
Zhetao Li ◽  
Jiwei Huang ◽  
Biao Liang ◽  
Dingyuan Zeng ◽  
Shiqiang Luo ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Copy Number ◽  
Congenital Heart ◽  
Copy Number Variations ◽  
Chinese Children

scholarly journals Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

2011 ◽  
Vol 108 (7) ◽  
pp. 2915-2920 ◽  
Author(s):  
K. A. Fakhro ◽  
M. Choi ◽  
S. M. Ware ◽  
J. W. Belmont ◽  
J. A. Towbin ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Copy Number ◽  
Congenital Heart ◽  
Copy Number Variations ◽  
Unique Genes

New Insights into the Impact of Genome-Wide Copy Number Variations on Complex Congenital Heart Disease in Saudi Arabia

2020 ◽  
Vol 24 (1) ◽  
pp. 16-28 ◽  
Author(s):  
Majed J. Dasouki ◽  
Salma M. Wakil ◽  
Olfat Al-Harazi ◽  
Maarab Alkorashy ◽  
Nzioka P. Muiya ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Saudi Arabia ◽  
Heart Disease ◽  
Copy Number ◽  
Congenital Heart ◽  
Copy Number Variations ◽  
Complex Congenital Heart Disease ◽  
Genome Wide ◽  
The Impact

scholarly journals MLPA � first-tier Screening Assay in Newborns with Nonsyndromic Congenital Heart Disease

2020 ◽  
Vol 71 (2) ◽  
pp. 175-178
Author(s):  
Elena Moldovan ◽  
Valeriu Moldovan ◽  
Claudia Banescu ◽  
Lucian Puscasiu ◽  
Manuela Cucerea
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Copy Number ◽  
Congenital Heart ◽  
Correct Diagnosis ◽  
Neonatal Morbidity ◽  
Copy Number Variations ◽  
Molecular Testing ◽  
Study Cohort ◽  
Screening Assay

Congenital heart disease(CHD) is the most frequent malformative pathology seen in newborns, with an incidence of 10/1000 births, and is considered a major cause of neonatal morbidity and mortality. About one third of congenital heart disease cases are of genetic origin, particular copy number variations being described as possible nonsyndromic and syndromic congenital heart disease causes. Here, we set out to find whether the MLPA technique could be used as a first-tier screening assay in newborns with apparently nonsyndromic CHDs, and thus to genetically confirm the CHD diagnosis. The study cohort included 60 newborns diagnosed with apparently nonsyndromic congenital heart disease, recruited for a period of 18 months. MLPA analysis was performed using the SALSA MLPA P311 and P250 kits. 10 newborns (16.67%) showed known genetically relevant copy number variations, namely three patients with 22q11.21 deletion, that were diagnosed with DiGeorge syndrome, and seven patients with a probable single exon 8p23.1 duplication that will be subjected to further molecular testing, in order to correctly assess their diagnosis. We can conclude that the screening of patients with apparently nonsyndromic congenital heart disease may lead to their early and correct diagnosis, and thus them benefitting from the detection of clinically relevant copy number variations using the MLPA technique.

scholarly journals Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

2012 ◽  
Vol 91 (3) ◽  
pp. 489-501 ◽  
Author(s):  
Rachel Soemedi ◽  
Ian J. Wilson ◽  
Jamie Bentham ◽  
Rebecca Darlay ◽  
Ana Töpf ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Copy Number ◽  
Congenital Heart ◽  
Copy Number Variants

scholarly journals Copy Number Variants and Exome Sequencing Analysis in Six Pairs of Chinese Monozygotic Twins Discordant for Congenital Heart Disease

2017 ◽  
Vol 20 (6) ◽  
pp. 521-532 ◽  
Author(s):  
Yuejuan Xu ◽  
Tingting Li ◽  
Tian Pu ◽  
Ruixue Cao ◽  
Fei Long ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Exome Sequencing ◽  
Copy Number ◽  
Congenital Heart ◽  
Copy Number Variants ◽  
Genetic Mutation ◽  
Sequencing Analysis ◽  
Susceptibility Loci ◽  
Mz Twins

Congenital heart disease (CHD) is one of the most common birth defects. More than 200 susceptibility loci have been identified for CHDs, yet a large part of the genetic risk factors remain unexplained. Monozygotic (MZ) twins are thought to be completely genetically identical; however, discordant phenotypes have been found in MZ twins. Recent studies have demonstrated genetic differences between MZ twins. We aimed to test whether copy number variants (CNVs) and/or genetic mutation differences play a role in the etiology of CHDs by using single nucleotide polymorphism (SNP) genotyping arrays and whole exome sequencing of twin pairs discordant for CHDs. Our goal was to identify mutations present only in the affected twins, which could identify novel candidates for CHD susceptibility loci. We present a comprehensive analysis for the CNVs and genetic mutation results of the selected individuals but detected no consistent differences within the twin pairs. Our study confirms that chromosomal structure or genetic mutation differences do not seem to play a role in the MZ twins discordant for CHD.

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