重视基因诊断在鳃耳肾综合征中的应用

温莹莹; 孙宇; 孔维佳

doi:10.13201/j.issn.1001-1781.2018.16.005

重视基因诊断在鳃耳肾综合征中的应用

- 华中科技大学同济医学院附属协和医院耳鼻咽喉科(武汉, 430022)
基金项目:
国家自然科学基金支持项目（No：81570923，81771003）

详细信息

通讯作者: 孙宇,E-mail:sunyu@hust.edu.cn

中图分类号: R764.43

收稿日期: 2018-03-28

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

More Information

Corresponding author: SUN Yu, E-mail: sunyu@hust.edu.cn

Received Date: 28 March 2018

摘要

- 鳃耳肾综合征 /
- 听力损失 /
- EYA1 /
- 拷贝数变异
Abstract: 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.
- branchio-oto-renal syndrome /
- hearing impariment /
- EYA1 /
- copy number variations

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参考文献(57)

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