OTOF

Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene.^[1]

Fukushima K, Ramesh A, Srisailapathy CR, et al. (1996). "An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6.". Genome Res. 5 (3): 305–8. PMID 8593615.
Yasunaga S, Grati M, Cohen-Salmon M, et al. (1999). "A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.". Nat. Genet. 21 (4): 363–9. doi:10.1038/7693. PMID 10192385.
Yasunaga S, Petit C (2000). "Physical map of the region surrounding the OTOFERLIN locus on chromosome 2p22-p23.". Genomics 66 (1): 110–2. doi:10.1006/geno.2000.6185. PMID 10843812.
Adato A, Raskin L, Petit C, Bonne-Tamir B (2000). "Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.". Eur. J. Hum. Genet. 8 (6): 437–42. doi:10.1038/sj.ejhg.5200489. PMID 10878664.
Yasunaga S, Grati M, Chardenoux S, et al. (2000). "OTOF encodes multiple long and short isoforms: genetic evidence that the long ones underlie recessive deafness DFNB9.". Am. J. Hum. Genet. 67 (3): 591–600. PMID 10903124.
Migliosi V, Modamio-Høybjør S, Moreno-Pelayo MA, et al. (2002). "Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.". J. Med. Genet. 39 (7): 502–6. PMID 12114484.
Mirghomizadeh F, Pfister M, Apaydin F, et al. (2002). "Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.". Neurobiol. Dis. 10 (2): 157–64. PMID 12127154.
Mirghomizadeh F, Pfister M, Blin N, Pusch CM (2003). "Uncommon cytidine-homopolymer dimorphism in 5'-UTR of the human otoferlin gene.". Int. J. Mol. Med. 11 (1): 63–4. PMID 12469219.
Varga R, Kelley PM, Keats BJ, et al. (2003). "Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.". J. Med. Genet. 40 (1): 45–50. PMID 12525542.
Piechotta K, Garbarini N, England R, Delpire E (2004). "Characterization of the interaction of the stress kinase SPAK with the Na+-K+-2Cl- cotransporter in the nervous system: evidence for a scaffolding role of the kinase.". J. Biol. Chem. 278 (52): 52848–56. doi:10.1074/jbc.M309436200. PMID 14563843.
Varga R, Avenarius MR, Kelley PM, et al. (2006). "OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.". J. Med. Genet. 43 (7): 576–81. doi:10.1136/jmg.2005.038612. PMID 16371502.
Roux I, Safieddine S, Nouvian R, et al. (2006). "Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse.". Cell 127 (2): 277–89. doi:10.1016/j.cell.2006.08.040. PMID 17055430.

References

Further reading