Genetic basis of congenital cardiovascular malformations
Genetic basis of congenital cardiovascular malformations
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DOI：
10.1016/j.ejmg.2014.04.010
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发表时间：
2014-08-01
影响因子：
1.9
通讯作者：
Belmont, John W.
中科院分区：
文献类型：
--
作者：
Lalani, Seema R.;Belmont, John W.
心血管畸形是一类非常重要的出生缺陷，由于医疗和外科护理的显著改善，现在有大量的成年幸存者。病因是复杂的，但有强有力的证据表明，遗传因素起着至关重要的作用。在过去的15年里，在发现综合征性心脏畸形的致病基因和罕见的孟德尔型家族方面取得了巨大进展。基因组疾病作为先天性心脏缺陷的主要贡献者的快速表征也是值得注意的。所鉴定的基因编码许多转录因子、染色质调节因子、生长因子和信号转导蛋白-所有这些都通过它们在正常心脏发育中所需的作用而统一起来。全基因组编码区测序有望阐明影响心脏发育的几种疾病的遗传原因。这种评估常见和罕见变异的综合研究对于表征基因-基因相互作用以及理解增加先天性心脏病易感性的基因-环境相互作用至关重要。(C)2014年Elsevier Masson SAS。All rights reserved.
Cardiovascular malformations are a singularly important class of birth defects and due to dramatic improvements in medical and surgical care, there are now large numbers of adult survivors. The etiologies are complex, but there is strong evidence that genetic factors play a crucial role. Over the last 15 years there has been enormous progress in the discovery of causative genes for syndromic heart malformations and in rare families with Mendelian forms. The rapid characterization of genomic disorders as major contributors to congenital heart defects is also notable. The genes identified encode many transcription factors, chromatin regulators, growth factors and signal transduction proteins- all unified by their required roles in normal cardiac development. Genome-wide sequencing of the coding regions promises to elucidate genetic causation in several disorders affecting cardiac development. Such comprehensive studies evaluating both common and rare variants would be essential in characterizing gene-gene interactions, as well as in understanding the gene-environment interactions that increase susceptibility to congenital heart defects. (C) 2014 Elsevier Masson SAS. All rights reserved.