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What's hot about otoferlin
Author(s) -
Avraham Karen B
Publication year - 2016
Publication title -
the embo journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.484
H-Index - 392
eISSN - 1460-2075
pISSN - 0261-4189
DOI - 10.15252/embj.201695881
Subject(s) - biology , missense mutation , hearing loss , genetics , gene , mutation , audiology , medicine
Mutations in the otoferlin ( OTOF ) gene lead to profound hearing loss in humans. Interestingly, a number of missense otoferlin mutations cause hearing defects but only at higher body temperature, and the reasons for this have been elusive until now. A study published in this issue of The EMBO Journal (Strenzke et al , [Strenzke N, 2016]) adds insight into the underlying mechanisms for this heat‐dependent hearing loss.