Mutations in TMEM43 cause autosomal dominant auditory neuropathy spectrum disorder via interaction with Connexin-mediated passive conductance channels
Minwoo Wendy Jang, Doo‐Yi Oh, Eunyoung Yi, Xuezhong Liu, Jie Ling, Nayoung Kim, Kushal Sharma, Tai Young Kim, Seungmin Lee, Ah Reum Kim, Min Young Kim, Min A Kim, Mingyu Lee, Jin Hee Han, Jae Joon Han, , Byung Yoon Choi
This study identifies TMEM43 mutations as a cause of autosomal dominant auditory neuropathy spectrum disorder by showing their interaction with Connexin-mediated channels in cochlear glia-like supporting cells.
Proceedings of the National Academy of Sciences · May 28, 2021Peer-reviewedGenetics