A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness
- 1 April 1999
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 21 (4) , 363-369
- https://doi.org/10.1038/7693
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.Keywords
This publication has 48 references indexed in Scilit:
- An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.Human Molecular Genetics, 1999
- Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3Science, 1998
- Connexin 26 gene linked to a dominant deafnessNature, 1998
- A mutation in PDS causes non-syndromic recessive deafnessNature Genetics, 1998
- Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 GeneHuman Molecular Genetics, 1997
- Connexin26 mutations associated with the most common form of non- syndromic neurosensory autosomal recessive deafness (DFNB1) in MediterraneansHuman Molecular Genetics, 1997
- The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA geneNature Genetics, 1997
- Mutations in the myosin VIIA gene cause non-syndromic recessive deafnessNature Genetics, 1997
- Connexin 26 mutations in hereditary non-syndromic sensorineural deafnessNature, 1997
- Genes responsible for human hereditary deafness: symphony of a thousandNature Genetics, 1996