The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss.

ABSTRACT: TECTA is well known as a causative gene for autosomal dominant mid-frequency hearing loss observed in various populations. In this study, we performed next-generation sequencing analysis of a large Japanese hearing loss cohort, including eight hundred and twelve (812) subjects from unrelated autosomal dominant hearing loss families, to estimate the prevalence and phenotype-genotype correlations in patients with TECTA mutations. The prevalence of TECTA mutations in Japanese autosomal dominant sensorineural hearing loss families was found to be 3.2%. With regard to the type of hearing loss, the patients with mutations in the nidogen-like domain or ZA domain of TECTA showed varied audiograms. However, most of the patients with mutations in the ZP domain showed mid-

SUBMITTER: Yasukawa R 

PROVIDER: S-EPMC6826443 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature