Regular ArticleSubstitutions in the Conserved C2C Domain of Otoferlin Cause DFNB9, a Form of Nonsyndromic Autosomal Recessive Deafness
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Molecular approach of auditory neuropathy
2015, Brazilian Journal of OtorhinolaryngologyCitation Excerpt :The OTOF gene, located on chromosome 2 (2p23-p22), contains 48 exons and encodes the protein otoferlin, which is expressed in cochlear inner hair cells and type I vestibular hair cells.3 Since then, molecular studies have been published that allowed the identification of mutations in the OTOF gene and associated them to the autosomal-recessive nonsyndromic AN.2–12 Therefore, this study aimed to investigate the prevalence of mutations in the OTOF gene: 2416T-A (Y730X) in exon 18,3 IVS8-2-A-G in intron 8/exon 9,6 2485C-T (Q829X) in exon 22,5 5473C-G (Pro1825Ala) in exon 44,5 and 3032T-C (Leu1011Pro) in exon 26,9 in patients with AN and in patients with non-syndromic HL.
Identification of a novel splice site variant of OTOF in the Korean nonsyndromic hearing loss population with low prevalence of the OTOF mutations
2014, International Journal of Pediatric OtorhinolaryngologyEvidence for genotype-phenotype correlation for OTOF mutations
2014, International Journal of Pediatric OtorhinolaryngologyCitation Excerpt :In this disease, auditory nerve and/or inner hair cells are damaged, however, the outer hair cells are intact [12]. Most individuals previously reported with OTOF mutations exhibited severe-to-profound SNHL [6,8,9,11,13–18]. However, available data on genotype–phenotype correlation remain limited.
Otoferlin: A multi-C <inf>2</inf> domain protein essential for hearing
2012, Trends in NeurosciencesCitation Excerpt :Finally, the coiled-coil domain of otoferlin might form a superhelix either with itself or with other proteins, and the ‘zippering-together’ of the helices could help to overcome the energy barrier for fusion of the two membranes. Pathogenic mutations in OTOF underlie the nonsyndromic autosomal recessive deafness DFNB9 [5] and, together with the non-pathogenic mutations, provide some indication of which protein domains are important for otoferlin function (Figure 4, [58–65]). Non-pathogenic sequence variants are mostly found in the C2A domain or in the linker regions between C2 domains.
Screening of OTOF mutations in Iran: A novel mutation and review
2012, International Journal of Pediatric Otorhinolaryngology
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Both authors contributed equally to this work.