A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.

Authors: Yasunaga, S  Grati, M  Cohen-Salmon, M  El-Amraoui, A  Mustapha, M  Salem, N  El-Zir, E  Loiselet, J  Petit, C 
Citation: Yasunaga S, etal., Nat Genet. 1999 Apr;21(4):363-9.
Pubmed: (View Article at PubMed) PMID:10192385
DOI: Full-text: DOI:10.1038/7693

Using a candidate gene approach, we identified a novel human gene, OTOF, underlying an autosomal recessive, nonsyndromic prelingual deafness, DFNB9. The same nonsense mutation was detected in four unrelated affected families of Lebanese origin. OTOF is the second member of a mammalian gene family related to Caenorhabditis elegans fer-1. It encodes a predicted cytosolic protein (of 1,230 aa) with three C2 domains and a single carboxy-terminal transmembrane domain. The sequence homologies and predicted structure of otoferlin, the protein encoded by OTOF, suggest its involvement in vesicle membrane fusion. In the inner ear, the expression of the orthologous mouse gene, mainly in the sensory hair cells, indicates that such a role could apply to synaptic vesicles.

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CRRD ID: 9479153
Created: 2014-08-27
Species: All species
Last Modified: 2014-08-27
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.