重视基因诊断在鳃耳肾综合征中的应用

Emphasizing the application of genetic diagnosis in branchio-oto-renal syndrome

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.