Congenital Heart Disease: Emerging Themes Linking Genetics and Development

Overview

Journal Curr Opin Genet Dev

Publisher Elsevier

Specialties Biology
Genetics

Date 2013 Jun 25

PMID 23790954

Citations 35

Authors

Shiaulou Yuan

Samir Zaidi

Martina Brueckner

Affiliations

Soon will be listed here.

Abstract

Although congenital heart disease (CHD) is the most common survivable birth defect, the etiology of most CHD remains unclear. Several lines of evidence from humans and vertebrate models have supported a genetic component for CHD, yet the extreme locus heterogeneity and lack of a distinct genotype-phenotype correlation have limited causative gene discovery. However, recent advances in genomic technologies are permitting detailed evaluation of the genetic abnormalities in large cohorts of CHD patients. This has led to the identification of copy-number variation and de novo mutations together accounting for up to 15% of CHD. Further, new strategies coupling human genetics with model organisms have provided mechanistic insights into the molecular and developmental pathways underlying CHD pathogenesis, notably chromatin remodeling and ciliary signaling.

Citing Articles

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Functions of cilia in cardiac development and disease.

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Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease.

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