Advances in cochlear implantation for hereditary deafness caused by common mutations in deafness genes

Abstract

The pathogenic factors of deafness are complex; more than 50% of cases are caused by genetic factors. Between 75% and 80% of cases of hereditary hearing impairment are autosomal recessive, 15% to 25% are autosomal dominant, and 1% to 2% are mitochondrial or X-linked. Cochlea implantation is the main method for treating severe and extremely severe bilateral sensorineural deafness and it is widely used in clinical treatment. As clinical cases of cochlea implantation accumulate, differences in the efficacy of implantation in individuals are emerging and attracting attention. In addition to residual hearing level, implantation age, and other factors, gene mutation is an important factor influencing postoperative rehabilitation in patients. With continuous progress in genetic testing technology for deafness, genetic diagnosis has become an important tool in preoperative evaluation and postoperative effect prediction in patients undergoing cochlear implantation. This article reviews the current status and future development of cochlear implantation in the treatment of hereditary deafness resulting from mutations in common deafness-causing genes. Key words: cochlear implant; effectiveness; gene mutation; GJB2 gene; hereditary deafness; mitochondrial 12S rRNA gene; OTOF gene; PJVK gene; SLC26A4 gene; Usher syndrome