Article
Clinical Characteristics and In Vitro Analysis of MYO6 Variants Causing Late-Onset Progressive Hearing Loss.
Genes - 4 Mar 2020
Oka Shin-Ichiro, Day Timothy F, Nishio Shin-Ya, Moteki Hideaki, Miyagawa Maiko, Morita Shinya, Izumi Shuji, Ikezono Tetsuo, Abe Satoko, Nakayama Jun, Hyogo Misako, Okamoto Nobuhiko, Uehara Natsumi, Oshikawa Chie, Kitajiri Shin-Ichiro, Usami Shin-Ichi
Abstract excerpt
MYO6 is known as a genetic cause of autosomal dominant and autosomal recessive inherited hearing loss. In this study, to clarify the frequency and clinical characteristics of hearing loss caused by MYO6 gene mutations, a large-scale genetic analysis of Japanese patients with hearing loss was performed. By means of massively parallel DNA sequencing (MPS) using next-generation sequencing for 8074 Japanese families,...
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