scholarly journals Network Assisted Analysis of De Novo Variants Using Protein-Protein Interaction Information Identified 46 Candidate Genes for Congenital Heart Disease

2021 ◽  
Author(s):  
Yuhan Xie ◽  
Wei Jiang ◽  
Weilai Dong ◽  
Hongyu Li ◽  
Sheng Chih Jin ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Candidate Genes ◽  
Protein Interaction ◽  
Congenital Heart ◽  
De Novo ◽  
Study Cohort ◽  
Risk Genes ◽  
Protein Protein Interaction ◽  
Ppi Networks

De novo variants (DNVs) with deleterious effects have proved informative in identifying risk genes for early-onset diseases such as congenital heart disease (CHD). A number of statistical methods have been proposed for family-based studies or case/control studies to identify risk genes by screening genes with more DNVs than expected by chance in Whole Exome Sequencing (WES) studies. However, the statistical power is still limited for cohorts with thousands of subjects. Under the hypothesis that connected genes in protein-protein interaction (PPI) networks are more likely to share similar disease association status, we develop a Markov Random Field model that can leverage information from publicly available PPI databases to increase power in identifying risk genes. We identified 46 candidate genes with at least 1 DNV in the CHD study cohort, including 18 known human CHD genes and 35 highly expressed genes in mouse developing heart. Our results may shed new insight on the shared protein functionality among risk genes for CHD.

scholarly journals De novo variants in exomes of congenital heart disease patients identify risk genes and pathways

2020 ◽  
Vol 12 (1) ◽  
Author(s):  
Cigdem Sevim Bayrak ◽  
Peng Zhang ◽  
Martin Tristani-Firouzi ◽  
Bruce D. Gelb ◽  
Yuval Itan
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
De Novo ◽  
Risk Genes

scholarly journals Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Begona Sanchez-Lechuga ◽  
Muhammad Saqlain ◽  
Nicholas Ng ◽  
Kevin Colclough ◽  
Conor Woods ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Case Report ◽  
Congenital Heart ◽  
De Novo ◽  
Adult Onset ◽  
Onset Diabetes ◽  
Adult Onset Diabetes ◽  
Pancreatic Agenesis

scholarly journals Genotyping of GATA4 Gene Variant (G296S) in Malaysian Congenital Heart Disease Subjects by Real-Time PCR High Resolution Melting Analysis

2013 ◽  
Vol 32 (2) ◽  
pp. 152-157
Author(s):  
Nora Fawzi ◽  
Ramachandran Vasudevan ◽  
Patimah Ismail ◽  
Mazeni Alwi ◽  
Ahmad Fazli Abdul Aziz ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
High Resolution ◽  
Congenital Heart ◽  
High Resolution Melting ◽  
New Technology ◽  
Cost Effective ◽  
Study Cohort ◽  
Hrm Analysis ◽  
Melting Analysis

Summary Background: Congenital heart disease (CHD) is the most common birth defect; however, the underlying etiology is unrecognized in the majority of cases. GATA-binding protein 4 (GATA4), a cardiac transcription factor gene, has a crucial role in the cardiogenesis process; hence, a number of heterozygote sequence variations were identified as a cause of CHD. G296S heterozygote variant is the most frequently reported GATA4 gene sequence alteration. This study aims to investigate the role of G296S variant of the GATA4 gene in Malaysian CHD subjects. Methods: We have investigated 86 Malaysian CHD subjects with cardiac septation defects for the presence of the GATA4 gene heterozygote variant (G296S) by the new technology of high resolution melting (HRM) analysis. Results: Genotyping of G296S (c.886G>A) by HRM analysis shows that all the sample genotypes were of the wild GG type genotype and the heterozygote mutant GA genotype was totally absent from this study cohort. Conclusions: The results of our study showed that the G296S variant of the GATA4 gene was not associated with the development of CHD in Malaysian subjects. The use of HRM analysis proved a cost-effective, high-throughput, specific and sensitive genotyping technique which eliminates the need for unnecessary sequencing.

Imaging-Based Wave Intensity Analysis: Applications in Congenital Heart Disease

2013 ◽  
Author(s):  
Giovanni Biglino ◽  
Hopewell N. Ntsinjana ◽  
Kim H. Parker ◽  
Silvia Schievano ◽  
Andrew M. Taylor
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Arterial Switch Operation ◽  
Small Population ◽  
Wave Intensity ◽  
Study Cohort ◽  
Intensity Analysis ◽  
Wave Intensity Analysis ◽  
Congenital Aortic Stenosis

Wave intensity analysis is a hemodynamic index evaluating the working condition of the heart in relation to the rest of the vasculature [1]. As such it carries valuable mechanistic information on ventriculo-arterial (VA) coupling. Its applications have ranged from studies of cardiac assist devices to fetal studies. Our group has proposed a way to derive wave intensity from phase-contrast magnetic resonance (PCMR) data [2]. We now suggest that this technique has a duple potential: (a) comparing patients against healthy subjects to investigate VA coupling and mechanistic changes related to surgery or devices, and (b) providing measures and indices to assess hemodynamic scenarios adding valuable mechanistic considerations. We aim to show both applications in the complex field of congenital heart disease. In the first instance, we will use this methodology to assess changes in wave speed and VA coupling in patients with transposition of the great arteries (TGA) repaired with arterial switch operation and palliated with atrial switch. In the second case, we will assess the potential of wave intensity-derived parameters for detecting diastolic dysfunction, and we selected a small population of patients with congenital aortic stenosis as a first suitable study cohort.

scholarly journals Where the congenital heart disease meets the pulmonary arterial hypertension, FLNA matters: a case report and literature review

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Xiaoxian Deng ◽  
Shanshan Li ◽  
Qiu Qiu ◽  
Bowen Jin ◽  
Menghuan Yan ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Congenital Heart ◽  
Pediatric Patients ◽  
De Novo ◽  
Wide Spectrum ◽  
Heart Defects ◽  
Pulmonary Arterial

Abstract Background Pediatric patients with genetic disorders have a higher incidence of pulmonary arterial hypertension (PAH) regardless of their heart defects. Filamin A (FLNA) mutation is recently recognized to be associated with pediatric pulmonary disorders, however, the clinical courses of PAH related to the mutation were reported in limited cases. Here, we presented a case and pooled data for better understanding of the correlation between FLNA mutation and pediatric PAH. Case presentation The patient was a 8-month-old female with repeated episodes of pneumonia. Physical examination revealed cleft lip, cleft palate and developmental retardation. Imaging examination showed a small atrial septal defect (ASD), central pulmonary artery enlargement, left upper lobe of lung atelectasis, and pulmonary infiltration. Genetic test showed she carried a de novo pathogenic variant of FLNA gene (c.5417-1G > A, p.-). Oral medications didn’t slow the progression of PAH in the patient, and she died two years later. Conclusions FLNA mutation causes rare but progressive PAH in addition to a wide spectrum of congenital heart disease and other comorbidities in pediatric patients. We highly recommend genetic testing for pediatric patients when suspected with PAH. Given the high mortality in this group, lung transplantation may offer a better outcome.

scholarly journals The Congenital Heart Disease Genetic Network Study: Cohort description

PLoS ONE ◽  
2018 ◽  
Vol 13 (1) ◽  
pp. e0191319 ◽  
Author(s):  
Thanh T. Hoang ◽  
Elizabeth Goldmuntz ◽  
Amy E. Roberts ◽  
Wendy K. Chung ◽  
Jennie K. Kline ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Genetic Network ◽  
Study Cohort

scholarly journals FISH spots microdeletion in heart defects

2009 ◽  
Vol 15 (S3) ◽  
pp. 5-6
Author(s):  
P. Ferraz-Gameiro ◽  
J. Ferrão ◽  
C. Mendes ◽  
L. M. Pires ◽  
E. Matoso ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
De Novo ◽  
Heart Defects ◽  
Autosomal Dominant Trait ◽  
Conotruncal Malformations ◽  
Wide Range ◽  
22Q11.2 Microdeletion ◽  
Made In

AbstractThe 22q11.2 microdeletion is found in most of DiGeorge and velocardiofacial syndromes. These individuals have a wide range of anomalies including congenital heart disease, palatal abnormalities, characteristic facial features, hypocalcaemia, immune deficiency, and learning difficulties. Congenital heart disease, particularly conotruncal malformations are associated with 29% of deletions. This syndrome may be inherited as an autosomal dominant trait, but the majority of patients (93%) have a de novo deletion. To access the presence of the microdeletion in those individuals whose phenotipic changes suggested abnormalities in chromosome 22, a study has been made in several children with congenital heart defects.

scholarly journals Genomic analyses implicate noncoding de novo variants in congenital heart disease

2020 ◽  
Vol 52 (8) ◽  
pp. 769-777 ◽  
Author(s):  
Felix Richter ◽  
Sarah U. Morton ◽  
Seong Won Kim ◽  
Alexander Kitaygorodsky ◽  
Lauren K. Wasson ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
De Novo ◽  
Genomic Analyses
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