The role of nectins in morphogenesis of the primary palate: implications for non-syndromic cleft lip and palate.

伴有或不伴有腭裂的唇裂可能是一种孤立的特征，也可能是一系列更广泛的异常的一部分。并发症状。总的来说，唇腭裂是人类第四大最常见的先天性疾病，在世界范围内的发病率在600分之一到1000分之一之间。这种高频率反映了发育中的面部对遗传和/或环境扰动的高度易感性，并且可能是最终产生人脸的快速而显著的形态变化的直接后果。然而，尽管这种异常具有临床意义，给患者及其家属带来了心理和经济负担，但对其遗传机制，特别是细胞机制的了解相对较少。我们正在寻求了解两种关键蛋白质在上唇和上颚形成中的细胞和发育作用。预计这些研究将提供有价值的新线索，作为分子事件的基础，某些形式的唇裂和腭裂，以及揭示一个可能的机制来解释一些显著的临床变异性，最显著的是在分离形式的唇裂和腭裂。据设想，这些数据可能最终导致制定更有效的诊断和预防措施。

Cleft lip with or without cleft palate may be an isolated feature or part of a wider array of abnormalities, ie. syndrome. Collectively, cleft lip and palate is the fourth most common congenital disorder in humans, occurring with a frequency of between 1 in 600 and 1 in 1000 live births worldwide. This high frequency is reflective of the heightened susceptibility of the developing face to genetic and-or environmental perturbation and likely arises as a direct consequence of the rapid and significant morphological changes that ultimately generate the human face. Yet despite the clinical significance of this abnormality and the psychological and financial burden to the patient and their family, there is relatively little known about the genetic and, in particular, cellular mechanisms responsible. We are seeking to understand the cellular and developmental role(s) of two key proteins in the formation of the upper lip and palate. It is anticipated that these studies will provide valuable new clues as to the molecular events that underlie some forms of cleft lip and palate as well as reveal a likely mechanism to explain some of the marked clinical variability that is seen most prominently in the isolated forms of cleft lip and palate. It is envisaged that these data may ultimately lead to the development of more effective diagnostic and preventative measures.