非综合征型耳聋基因与听力学表型的研究进展

Advances in research on non-Syndromic deafness genes and hearing curve

耳聋是一种影响患者生活质量的致残性疾病,对儿童发育尤为有害,且与60岁及以上人群的痴呆症和其他健康状况密切相关。因此,耳聋的预防和治疗在年龄谱的两端尤为重要。在耳聋病例中,几乎一半的患者与耳聋基因突变有关,但有效的治疗非常有限。近年来随着基因检测技术的广泛应用和防聋意识的进一步提高,对耳聋基因的研究也更加深入。同时,对耳聋突变基因的探索,有助于深入了解听觉系统中各组织细胞的结构和功能,并对耳聋患者的临床诊断和治疗靶点提供一定的指导意义。本文以听力学表型为分类标准综述了常见的耳聋突变基因,旨在加深对耳聋致病基因的理解,并对其治疗干预提供框架基础。

Deafness is a disabling disease that affects the life quality of patients,which is particularly harmful to the development of children and is closely related to dementia and other health conditions of people aged 60 and over.Therefore,the prevention and treatment of deafness are particularly important at both ends of the age spectrum.In deaf cases,almost half of patients are related to deafness gene mutation,but effective treatment is very limited.In recent years,with the wide application of gene detection technology and the further improvement of anti deafness awareness,the research on deafness genes is also more in-depth.At the same time,the exploration of deaf mutant genes is helpful to deeply understanding the structure and function of various tissues and cells in the auditory system and provides some guiding significance for the clinical diagnosis and treatment targets of deaf patients.This paper reviews the common deafness mutant genes based on audiological phenotype,to deepen the understanding of deafness pathogenic genes and provide a framework for their therapeutic intervention.