The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

ABSTRACT: Etiological studies have shown genetic disorders to be a major cause of sensorineural hearing loss, but there are a limited number of comprehensive etiological reports based on genetic analysis. In the present study, the same platform using a diagnostic DNA panel carrying 63 deafness genes and the same filtering algorithm were applied to 10,047 samples obtained from social health insurance-based genetic testing of hearing loss. The most remarkable result obtained in this comprehensive study was that the data first clarified the genetic epidemiology from congenital/early-onset deafness to late-onset hearing loss. The overall diagnostic rate was 38.8%, with the rate differing for each age group; 48.6% for the congenital/early-onset group (~5y.o.), 33.5% for the juvenile/young adult-onset gro

SUBMITTER: Usami SI 

PROVIDER: S-EPMC9035015 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature