先天性双侧输精管缺如相关致病基因研究进展

Gene mutations in congenital bilateral absence of the vas deferens:An update

先天性双侧输精管缺如(CBAVD)会导致梗阻性无精子症及男性不育,是男性生殖系统先天性畸形的一种。目前公认囊性纤维化跨膜转导调节因子(CFTR)的突变是CBAVD的主要病因,随着研究的深入,发现粘附型G蛋白偶联受体G2(ADGRG2)、溶质载体家族9成员3(SLC9A3)等基因的异常也参与了CBAVD的发生发展。建立合理的CBAVD分子诊断流程,联合辅助生殖技术是目前有效诊疗CBAVD的方法,但子代也存在遗传的风险。本文重点对CFTR、ADGRG2、SLC9A3基因在CBAVD中的致病机制进行概述,旨在为CBAVD的临床诊疗和遗传咨询提供新的思路。

Congenital bilateral absence of the vas deferens(CBAVD)is a congenital malformation of the male reproductive system and one of the important causes of obstructive azoospermia and male infertility.It is currently recognized that the main cause of CBAVD is the mutation of the cystic fibrosis transmembrane conductance regulator gene(CFTR).And the mutations of adhesion G protein-coupled receptor G2(ADGRG2),solute carrier family 9 isoform 3(SLC9A3)and other genes are also found to be involved in the development and progression of CBAVD.A reasonable CBAVD molecular diagnosis process combined with assisted reproductive technology is currently the most effective method for the diagnosis and treatment of CBAVD,but the offspring of the patient may face the risk of hereditary inheritance.This article focuses on the pathogenesis of CFTR,ADGRG2 and SLC9A3 causing CBAVD,and aims to provide some new ideas for the clinical diagnosis and treatment of CBAVD and CBAVD-related genetic counseling.