Pierre-Robin综合征的遗传调控机制

The Genetic Regulation of Pierre-Robin Syndrome

Pierre-Robin综合征(Pierre-Robin syndrome,PRS)是一种能引起颅面器官异常的遗传性疾病,主要表现为下颌发育不全、舌后坠和腭裂等,可导致新生儿喂食困难,甚至危及个体生命的阻塞性呼吸暂停,是先天性颅面畸形中较为常见的一种综合征。该综合征在全球的发病率为1/8 500~1/14 000,不仅影响个体的生长发育还影响其受教育程度,受到社会的广泛关注。虽然Pierre-Robin综合征的临床特征明显,易于诊断,但不同患者间高相似性的表型很容易掩盖患病个体之间的病理学异质性,从而很难确定每例Pierre-Robin综合征的具体病因。因此,了解Pierre-Robin综合征的发病原理及其遗传机制,对于防治Pierre-Robin综合征尤为重要。基于此,本文结合新近几年在Pierre-Robin综合征发病机制方面的相关研究,主要对引起该综合征的关键信号通路及其相关分子机制,特别是不同信号通路间的相互作用机制进行综述,从而进一步理解Pierre-Robin综合征发生的遗传调控机制。

Pierre-Robin syndrome is a congenital craniofacial malformation containing mandibular hypoplasia,glossoptosis, and cleft palate leading to feeding difficulties and even life-threatening obstructive apnea in newborn infants. It occurs in 1/8 500 to 1/14 000 births. The malformation affects not only growth but also long-term education of patients. Though the diagnosis of Pierre-Robin syndrome is readily recognizable by clinical features,the phenotypic similarity conceals etiological heterogeneity among individuals,making it difficult to find out the specific genetic cause in each individual of PierreRobin syndrome. Therefore, to reveal the genetic mechanism of Pierre-Robin syndrome becomes particularly important. In this review,we introduce the latest studies on the pathogenesis and molecular mechanism of Pierre-Robin syndrome. Our review provides important references for further understanding of genetic control of Pierre-Robin syndrome.