摘要
鳃耳肾综合征(branchio-oto-renal syndrome)为常染色体显性遗传性疾病,主要临床表现有鳃裂发育异常、耳前瘘管、听力损失以及肾脏疾病。新生儿中发病率为1/40 000,在重度及极重度聋儿中的发病率为2%^([1])。1975年Melnick等首先提出鳃耳肾综合征这一概念,随后不断完善总结。随着分子生物学的快速发展,多种基因检测工具相继出现,目前已明确的鳃耳肾致病基因有EYA1、SIX1、
Branchio-oto-renal syndrome(BOR)is an autosomal dominant genetic disorder characterized by branchial fistulas,hearing impairment,renal malformations and auricular anomalies.Pathogenic mutations have been discovered in several genes such as EYA1,SIX5,and SIX1.However,it has a high penetrance with variable expressivity.The clinical and genetical heterogeneity is widespread amongst and within families.In this review,we describe the clinical manifestations and pathogenic genes with copy number variations in detail,and emphasize the criteria clinically and genetically to provide the basis for clinical diagnosis of BOR and genetic counseling.
出处
《临床耳鼻咽喉头颈外科杂志》
CAS
北大核心
2018年第16期1226-1231,共6页
Journal of Clinical Otorhinolaryngology Head And Neck Surgery
基金
国家自然科学基金支持项目(No:81570923
81771003)
关键词
鳃耳肾综合征
听力损失
EYA1
拷贝数变异
branchio-oto-renal syndrome
hearing impariment
EYA1
copy number variations