Year: 2014
Type: preprint
Abstract: Congenital heart disease (CHD) is the most common birth defect. Despite considerable advances in care, CHD remains a major contributor to newborn mortality and is associated with substantial morbidities and premature death. Genetic abnormalities appear to be the primary cause of CHD, but identifying precise defects has proven challenging, principally because CHD is a complex genetic trait. Mainly because of recent advances in genomic technology such as next-generation DNA sequencing, scientists have begun to identify the genetic variants underlying CHD. In this article, the roles of modifier genes, de novo mutations, copy number variants, common variants, and noncoding mutations in the pathogenesis of CHD are reviewed.
Authors: B. D. Gelb, W. K. Chung
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: bronze
Awards: Genomic studies of secundum atrial septal defects, G6522068573, Molecular approaches to gene identification in congenital heart disease, G7712776932, Genetics of conotruncal defects and associated neurodevelopmental outcomes, Mount Sinai Center for Health and Environment Across the LifeSpan (HEALS)
OpenAlex ID: W2158830336