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Genetics of Congenital Heart Disease: The Glass Half Empty

Circulation research, 2013-02, Vol.112 (4), p.707-720 [Tạp chí có phản biện]

2013 American Heart Association, Inc. ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/CIRCRESAHA.112.300853 ;PMID: 23410880

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Nhan đề:
Genetics of Congenital Heart Disease: The Glass Half Empty
Tác giả: Fahed, Akl C ; Gelb, Bruce D ; Seidman, J G ; Seidman, Christine E
Chủ đề: Abnormalities, Multiple - genetics ; Abnormalities, Multiple - pathology ; Aneuploidy ; Chromosome Disorders - genetics ; Chromosome Disorders - pathology ; Fetal Heart - pathology ; Genes, Dominant ; Genes, Recessive ; Genes, X-Linked ; Genetic Association Studies ; Heart Defects, Congenital - classification ; Heart Defects, Congenital - epidemiology ; Heart Defects, Congenital - etiology ; Heart Defects, Congenital - genetics ; Heart Defects, Congenital - pathology ; Humans ; Infant ; Infant, Newborn ; Models, Cardiovascular ; Models, Genetic ; Point Mutation ; Prevalence ; Syndrome ; Systems Biology - methods
Là 1 phần của: Circulation research, 2013-02, Vol.112 (4), p.707-720
Mô tả: Congenital heart disease (CHD) is the most common congenital anomaly in newborn babies. Cardiac malformations have been produced in multiple experimental animal models, by perturbing selected molecules that function in the developmental pathways involved in myocyte specification, differentiation, or cardiac morphogenesis. In contrast, the precise genetic, epigenetic, or environmental basis for these perturbations in humans remains poorly understood. Over the past few decades, researchers have tried to bridge this knowledge gap through conventional genome-wide analyses of rare Mendelian CHD families, and by sequencing candidate genes in CHD cohorts. Although yielding few, usually highly penetrant, disease gene mutations, these discoveries provided 3 notable insights. First, human CHD mutations impact a heterogeneous set of molecules that orchestrate cardiac development. Second, CHD mutations often alter gene/protein dosage. Third, identical pathogenic CHD mutations cause a variety of distinct malformations, implying that higher order interactions account for particular CHD phenotypes. The advent of contemporary genomic technologies including single nucleotide polymorphism arrays, next-generation sequencing, and copy number variant platforms are accelerating the discovery of genetic causes of CHD. Importantly, these approaches enable study of sporadic cases, the most common presentation of CHD. Emerging results from ongoing genomic efforts have validated earlier observations learned from the monogenic CHD families. In this review, we explore how continued use of these technologies and integration of systems biology is expected to expand our understanding of the genetic architecture of CHD.
Nơi xuất bản: United States: American Heart Association, Inc
Ngôn ngữ: English
Số nhận dạng: ISSN: 0009-7330
EISSN: 1524-4571
DOI: 10.1161/CIRCRESAHA.112.300853
PMID: 23410880
Nguồn: Freely Accessible Journals
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Genetics of Congenital Heart Disease: The Glass Half Empty

2013 American Heart Association, Inc. ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/CIRCRESAHA.112.300853 ;PMID: 23410880

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