先天性外中耳畸形基因学研究进展

Advances in genetics of congenital malformation of external and middle ear

先天性外中耳畸形是一种耳鼻咽喉科常见疾病,在整个头面部先天性畸形中仅次于唇腭裂而位居第二。外耳与中耳的畸形可以单独发生,也可以作为全身性综合征序列征状在耳部的重要表现。近年来随着基因学研究的飞速发展和新技术的应用,针对先天性外中耳畸形致病基因的分子机制的研究日益引起国内外学者的关注。

Summary Congenital malformation of external and middle ear is a common disease in ENT department, and the incidence of this disease is second only to cleft lip and palate in the whole congenital malformations of the head and face. The external and middle ear malformations may occur separately, or as an important ear symptom of the systemic syndrome. We systematically review and analysis the genetic research progress of congenital malforma- tion of external and middle ear, which would be helpful to understand the mechanism of external and middle ear development, and to provide clues for the further discovery of new virulence genes.