Genes, Vol. 12, Pages 1623: Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants

In this study, genetic screening for MYH14 variants was carried out using a large series of Japanese hearing-loss patients to reveal more detailed information. Massively parallel DNA sequencing of 68 target candidate genes was applied in 8074 unrelated Japanese hearing-loss patients (including 1336 with ADNSHL) to identify genomic variations responsible for hearing loss. We identified 11 families with 10 variants. The prevalence was found to be 0.14% (11/8074) among all hearing-loss patients and 0.82% (11/1336) among ADNSHL patients. Nine of the eleven variants identified were novel. The patients typically showed late-onset hearing loss arising later than 20 years of age (64.3%, 9/14) along with progressive (92.3%, 12/13), moderate (62.5%, 10/16), and flat-type hearing loss (68.8%, 11/16). We also confirmed progressive hearing loss in serial audiograms. The clinical information revealed by the present study will contribute to further diagnosis and management of MYH14-associated hearing loss.

Source: Genes - October 15, 2021 Category: Genetics & Stem Cells Authors: Ken Hiramatsu Shin-ya Nishio Shin-ichiro Kitajiri Tomohiro Kitano Hideaki Moteki Shin-ichi Usami Tags: Article Source Type: research