351 Novel Mutations Segregating in Three Congenital Heart Disease Families Identified by Exome Sequencing

2012 ◽  
Vol 28 (5) ◽  
pp. S229
Author(s):  
A. Manickaraj ◽  
O. Buske ◽  
M. Brudno ◽  
S. Mital
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Exome Sequencing ◽  
Congenital Heart ◽  
Novel Mutations

scholarly journals Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly

2020 ◽  
Vol 24 (23) ◽  
pp. 13751-13762
Author(s):  
Huan‐Xin Chen ◽  
Zi‐Yue Yang ◽  
Hai‐Tao Hou ◽  
Jun Wang ◽  
Xiu‐Li Wang ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Cellular Function ◽  
Novel Mutations

Novel Mutations of NODAL Gene in Chinese Patients with Congenital Heart Disease

2012 ◽  
Vol 16 (4) ◽  
pp. 306-309
Author(s):  
Lei Sun ◽  
Longfei Cheng ◽  
Hanquan Dong ◽  
Binbin Wang ◽  
Guoying Huang ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Chinese Patients ◽  
Novel Mutations

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.

scholarly journals Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease

PLoS Genetics ◽  
2016 ◽  
Vol 12 (10) ◽  
pp. e1006335 ◽  
Author(s):  
Christoph Preuss ◽  
Melanie Capredon ◽  
Florian Wünnemann ◽  
Philippe Chetaille ◽  
Andrea Prince ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Notch Signaling ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Congenital Heart ◽  
Whole Exome ◽  
Family Based

Novel mutations of AXIN2 identified in a Chinese Congenital Heart Disease Cohort

2019 ◽  
Vol 64 (5) ◽  
pp. 427-435 ◽  
Author(s):  
Meng-Jiao Zhu ◽  
Xiao-Yun Ma ◽  
Pei-Cheng Ding ◽  
Han-Fei Tang ◽  
Rui Peng ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Novel Mutations

scholarly journals Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Ekanem N. Ekure ◽  
Adebowale Adeyemo ◽  
Hanhan Liu ◽  
Ogochukwu Sokunbi ◽  
Nnenna Kalu ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Exome Sequencing ◽  
Congenital Heart ◽  
De Novo ◽  
Sub Saharan Africa ◽  
Disease Genes ◽  
Loss Of Function ◽  
Unique Identifier ◽  
Sub Saharan

Background: Congenital heart disease (CHD) is the most common birth defect and affects roughly 1% of the global population. There have been many large CHD sequencing projects in developing countries but none in sub-Saharan Africa. In this exome sequencing study, we recruited families from Lagos, Nigeria, affected by structural heart disease. Methods: Ninety-eight participants with CHD and an average age of 3.6 years were recruited from Lagos, Nigeria. Exome sequencing was performed on probands and parents when available. For genes of high interest, we conducted functional studies in Drosophila using a cardiac-specific RNA interference–based gene silencing system. Results: The 3 most common CHDs were tetralogy of Fallot (20%), isolated ventricular septal defect (14%), and transposition of the great arteries (8%). Ten percent of the cohort had pathogenic or likely pathogenic variants in genes known to cause CHD. In 64 complete trios, we found 34 de novo variants that were not present in the African population in the Genome Aggregation Database (v3). Nineteen loss of function variants were identified using the genome-wide distribution of selection effects for heterozygous protein-truncating variants (s het ). Nine genes caused a significant mortality when silenced in the Drosophila heart, including 4 novel disease genes not previously associated with CHD ( UBB, EIF4G3, SREBF1 , and METTL23 ). Conclusions: This study identifies novel candidate genes and variants for CHD and facilitates comparisons with previous CHD sequencing studies in predominantly European cohorts. The study represents an important first step in genomic studies of CHD in understudied populations. Registration: URL: https://www.clinicaltrials.gov ; Unique identifier: NCT01952171.

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