摘要遗传因素是非综合征型聋常见的致病原因.随着分子检测技术的发展和日臻成熟,基因诊断和遗传咨询越来越多地影响着耳聋的临床实践.新生儿听力筛查的普及有助于耳聋的早期发现,耳聋基因筛查和诊断的普及有助于明确其病因,临床基因诊断和遗传咨询则有助于耳聋的早期干预.至今发现的非综合征型聋的致病基因有110个,鉴定其致病基因在临床上仍存在很多挑战.临床遗传咨询和产前诊断的开展,对耳聋基因检测和数据解读提出了更高的要求.本指南阐述了非综合征型耳聋的人群发病率、致病基因谱、遗传方式、疾病发展过程、临床表现、基因型-表型对应关系、基因诊断、治疗和干预,以及耳聋预防和再发风险评估等关键问题,为遗传咨询师、临床耳科医师及基因检测专业人员提供指导.

abstractsGenetic factors are a common cause for non-syndromic hearing loss (NSHL).Along with the development and maturity of molecular techniques,genetic diagnosis and counseling is increasingly affecting the clinical practice of NSHL.Newborn hearing screening has facilitated early detection of affected children,whilst genetic screening has enabled identification of the cause of NSHL,and genetic diagnosis and consultation can promote early intervention of deafness.So far 110 pathogenic genes of NSHL have been discovered,though there are still many challenges lying in its clinical identification.The development of genetic counseling and prenatal diagnosis has put forward greater requirements for genetic testing and data interpretation.This guideline has summarized the incidence,mutational spectrum,inheritance mode,pathogenesis,clinical manifestation,genotype ～ phenotype correlation,genetic testing,treatment and intervention,as well as risk assessment for NSHL,with an aim to provide a reference for genetic consultants,clinical otologists and professionals engaged in genetic testing.