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2014 ; 4
(7
): a013953
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Complex genetics and the etiology of human congenital heart disease
#MMPMID24985128
Gelb BD
; Chung WK
Cold Spring Harb Perspect Med
2014[Jul]; 4
(7
): a013953
PMID24985128
show ga
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.