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

Shin'ichiro Yasunaga, M'hamed Grati, Martine Cohen-Salmon, Aziz El-Amraoui, Mirna Mustapha, Nabiha Salem, Elie El-Zir, Jacques Loiselet, Christine Petit

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365 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)363-369
Number of pages7
JournalNature genetics
Volume21
Issue number4
DOIs
StatePublished - Apr 1 1999

ASJC Scopus subject areas

  • Genetics

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    Yasunaga, S., Grati, M., Cohen-Salmon, M., El-Amraoui, A., Mustapha, M., Salem, N., El-Zir, E., Loiselet, J., & Petit, C. (1999). A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nature genetics, 21(4), 363-369. https://doi.org/10.1038/7693