A Novel DFNA36 Mutation in TMC1 Orthologous to the Beethoven (Bth) Mouse Associated with Autosomal Dominant Hearing Loss in a Chinese Family

@inproceedings{Zhao2014AND,
  title={A Novel DFNA36 Mutation in TMC1 Orthologous to the Beethoven (Bth) Mouse Associated with Autosomal Dominant Hearing Loss in a Chinese Family},
  author={Yali Zhao and Dayong Wang and Liang Zong and Feifan Zhao and Liping Guan and Peng Zhang and Wei Shi and Lan Lan and Hongyang Wang and Qian Li and Bing Han and Ling Yang and Xin Jin and Jian Wang and Jun Wang and Qiuju Wang},
  booktitle={PloS one},
  year={2014}
}
Mutations in the transmembrane channel-like gene 1 (TMC1) can cause both DFNA36 and DFNB7/11 hearing loss. More than thirty DFNB7/11 mutations have been reported, but only three DFNA36 mutations were reported previously. In this study, we found a large Chinese family with 222 family members showing post-lingual, progressive sensorineural hearing loss which were consistent with DFNA36 hearing loss. Auditory brainstem response (ABR) test of the youngest patient showed a special result with nearly… CONTINUE READING
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