Lu Meng, Lu Xiaosheng, Jiang Haiyue, Pan Bo
Department of Auricular Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing.
Department of Plastic Surgery, Affiliated Hospital of Weifang Medical University, Weifang, China.
J Craniofac Surg. 2020 Mar/Apr;31(2):538-541. doi: 10.1097/SCS.0000000000006244.
Recently, an increasing trend of the birth prevalence of anotia/microtia is observed in China, contributed by changes of social environment and lifestyle. There seems to be no major breakthroughs in exact pathogenesis of microtia, though the research results related to molecular genetics unceasingly appear. In this review, the authors focus on the results of various research methods which the authors regard as the preferential suspicious gene pool to facilitate the exploration of the pathogenic genes of microtia, knowing that the mechanism of microtia is very complicated. The advantages and limitations of these various approaches will also be systematically delineated. The authors believe that this review will give a deep insight in the genetic research of microtia and help plastic surgeons manage congenital microtia more effectively.
近年来,在中国观察到小耳畸形/无耳畸形出生患病率呈上升趋势,这是由社会环境和生活方式的变化所致。尽管与分子遗传学相关的研究成果不断涌现,但小耳畸形的确切发病机制似乎尚无重大突破。在本综述中,作者聚焦于各种研究方法的结果,作者认为这些结果是优先可疑基因库,有助于探索小耳畸形的致病基因,因为深知小耳畸形的机制非常复杂。还将系统地阐述这些不同方法的优缺点。作者相信,本综述将为小耳畸形的遗传学研究提供深刻见解,并帮助整形外科医生更有效地处理先天性小耳畸形。