Vieira Alexandre R
Department of Oral Biology, University of Pittsburgh, Pittsburgh, PA, USA.
Front Oral Biol. 2012;16:19-31. doi: 10.1159/000337521. Epub 2012 Jun 25.
Cleft lip and palate is the most common craniofacial birth defect and its etiology has been the focus of many reports in the literature. It is well accepted that both genetics and environment play a role in the condition, however we still have not been able to translate what have been learned into clinical applications. This paper provides an interpretation of the latest research findings in humans and a perspective for where the field is going. The latest effort in gene identification and the associations between isolated cleft lip and palate and the loci harboring IRF6 (1q32) and 8q24.21 are highlighted, as well as the latest insight from more sophisticated phenotypical characterization and the inclusion of covariables related to the environment in the analysis of genetic variation.
唇腭裂是最常见的颅面先天性缺陷，其病因一直是文献中众多报道的焦点。遗传学和环境因素在该病中均起作用，这一点已得到广泛认可，然而我们仍未能将所学到的知识转化为临床应用。本文对人类最新研究结果进行了解读，并展望了该领域的发展方向。文中重点介绍了基因识别方面的最新成果，以及孤立性唇腭裂与含有IRF6（1q32）和8q24.21的基因座之间的关联，还阐述了更精细的表型特征分析以及在遗传变异分析中纳入与环境相关的协变量所获得的最新见解。
