Recombinant Human Otoferlin (OTOF), partial

1. two mutations-c.5098G > C (p.Glu1700Gln) and c.1702C > T (p.Arg568Trp)-in the OTOF gene were found to be correlated with ANSD. PMID: 30368385
2. ConclusionOur findings implicate OTOF as a potential major contributor to hearing loss in the Saudi population, while highlighting the low contribution of GJB2, thus offering important considerations for clinical testing strategies for Saudi patients. PMID: 29048421
3. This study suggested considerable genetic heterogeneity in the causation of hearing loss in Dhadkai. Recessive mutations were observed in at least three genes causing hearing loss: OTOF (p.R708X), SLC26A4 (p.Y556X) and CLDN14 (p.V85D). Mutation p.R708X appeared to be the major cause of hearing impairment in Dhadkai. PMID: 29434063
4. Although both otoferlin and synaptotagmin bind membrane fusion SNARE proteins, only otoferlin interacts with the L-type calcium channel Cav1.3. PMID: 28696301
5. three unrelated 2 to 6 year-old children who were diagnosed as auditory neuropathy patients who complained of severe hearing loss when they had fever had otoferlin (OTOF) homozygous or compound heterozygous mutations with the genotypes c.2975_2978delAG/c.4819C>T, c.4819C>T/c.4819C>T, or c.2382_2383delC/c.1621G>A PMID: 26778470
6. The authors conclude that the TRC40 pathway is critical for hearing and propose that otoferlin is an essential substrate of this pathway in hair cells. PMID: 27458190
7. In Otof(I515T/I515T) inner hair cells (IHCs), otoferlin levels are diminished by 65%, synaptic vesicles are enlarged, and exocytosis during prolonged stimulation is strongly reduced indicating that otoferlin is critical for the reformation of properly sized and fusion-competent synaptic vesicles. PMID: 27729456
8. Our results confirmed that mutations in OTOF gene were a major cause of congenital Auditory neuropathy spectrum disorder (ANSD) in China. Identification of OTOF mutations can facilitate diagnosis, clinical intervention and counseling for congenital ANSD PMID: 26818607
9. findings suggest that the mutation found in C2C domain of the OTOF gene is likely to cause deafness in the studied family reflecting the importance of C2 domains of otoferlin in hearing loss PMID: 27652356
10. Two mutations in the otoferlin gene, nonsense mutation p.R425X, contributes to a premature stop codon, may result in a truncated polypeptide, which strongly suggests its pathogenicity for auditory neuropathy spectrum disorder. The missense mutation p.L1665P results in a single amino acid substitution in a highly conserved region. PMID: 28335750
11. Mutations in RAI1, OTOF, and SLC26A4 may have roles in nonsyndromic hearing loss in Altaian families in Siberia PMID: 27082237
12. Our observation of the discordant audiologic phenotype within the same DFNB9 family is more likely due to the loss of OAE over time rather than a genotype-phenotype correlation. PMID: 24814232
13. audiological phenotype associated with different OTOF mutations appears to be consistently different suggesting the presence of a genotype-phenotype correlation PMID: 24746455
14. The C2F and C2C domains of otoferlin preferentially bind phosphatidylinositol 4,5-bisphosphate (4,5)P2. PMID: 24999532
15. We characterize a novel otoferlin mutation discovered in a sibling pair diagnosed with auditory neuropathy spectrum disorder and investigate auditory nerve function through their cochlear implants. PMID: 24135434
16. OTOF gene mutataion is found in a Chinese patient with auditory neuropathy spectrum disorder. PMID: 24001616
17. The six probable pathogenic variants of OTOF genes were novel: 2 nonsense mutations (p.W717X, p.S1368X) and 4 missense mutations (p.D450E, p.R1583H, p.V1778I, p. E1803A). PMID: 24053799
18. The study concludes that OTOF mutations are not the major cause of autosomal recessive nonsyndromic hearing loss in the Iranian population. PMID: 22906306
19. nine different mutations of OTOF were detected(seven of them were novel)in Japanese patients with auditory neuropathy PMID: 22575033
20. Otoferlin is a multi-C2 domain protein associated with genetic human deafness. It functions in hair-cell exocytosis. Several otoferlin C2 domains bind to Ca2+, phospholipids, & proteins. Review. PMID: 22959777
21. OTOF and PJVK gene variants have a role in auditory neuropathy spectrum disorder in Chinese patients PMID: 21935370
22. OTOF does not seem to contribute to the pathogenesis of autosomal dominant auditory neuropathy in this family study. PMID: 18035737
23. The predominance of the p.E1700Q mutation and the evidence of its founder effect indicate a distinct OTOF mutation spectrum in Taiwanese patients with auditory neuropathy. PMID: 20224275
24. The mutatuion screening confirms that the OTOF gene contributes to auditory neuropathy and to termperature-sensitive auditory neuropathy. PMID: 20504331
25. Purpose of this paper is to analyse OTOF gene in a series of subjects affected by auditory neuropathy. Genetic analysis identified five new mutations. PMID: 20211493
26. This study revealed a novel mutation p.Glu1804del in exon 44 of OTOF. The mutation was found to be homozygous in the three patients and segregated with the temperature-dependent deafness within the family. PMID: 20230791
27. Mutations in the OTOF gene are frequent causes of auditory neuropathy in Brazil and our results confirm that they are spread worldwide. PMID: 19461658
28. mechano-electrical transduction and cochlear amplification are normal in patients with OTOF mutations. Potentials are consistent with decreased neurotransmitter release resulting in abnormal dendritic activation and impairment of auditory nerve firing. PMID: 19636622
29. Q829X, a novel mutation in OTOF, is the third most frequent mutation causing prelingual non-syndromic hearing loss reported so far in the Spanish population. PMID: 12114484
30. Substitutions in the conserved Ca-binding C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness. 2 new mutations were found in exon 15 of the long splice form: 490 (Pro > Gln) and 515 (Ile > Thr. PMID: 12127154
31. There are uncommon cytidine-homopolymer dimorphisms in 5'-UTR of the human otoferlin gene. PMID: 12469219
32. Mutations in the OTOF gene cause a non-syndromic recessive auditory neuropathy. PMID: 12525542
33. Mutations in OTOF cause both profound hearing loss and a type of hearing loss where otoacoustic emissions are spared called auditory neuropathy. PMID: 16371502
34. Otoferlin is essential for a late step of synaptic vesicle exocytosis and may act as the major Ca(2+) sensor triggering membrane fusion at the auditory inner hair cell ribbon synapse. PMID: 17055430
35. Results confirm that mutation of the OTOF gene correlates with a phenotype of prelingual, profound nonsyndromic hearing impairment, and indicate that OTOF mutations are a major cause of inherited auditory neuropathy. PMID: 18381613
36. Direct interaction of otoferlin with syntaxin 1A, SNAP-25, and the L-type voltage-gated calcium channel Cav1.3. PMID: 19004828
37. we demonstrate the existence of an alternative splice isoform of OTOF expressed in the human cochlea PMID: 19250381

Show More

Hide All

HGNC: 8515

OMIM: 601071

KEGG: hsa:9381

STRING: 9606.ENSP00000272371

UniGene: Hs.91608