Gene: OTOF

Alternate names for this Gene: AUNB1|DFNB6|DFNB9|FER1L2|NSRD9

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p23.3

Description of this Gene: otoferlin

Type of Gene: protein-coding

rs183562580 in OTOF gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs879255246 in OTOF gene and DEAFNESS, AUTOSOMAL RECESSIVE (disorder) PMID 27082237 2016 Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).

rs111033405 in OTOF gene and Deafness, Autosomal Recessive 9 PMID 24746455 2014 Evidence for genotype-phenotype correlation for OTOF mutations.

PMID 21935370 2011 Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.

PMID 21557232 2011 Genetic characteristics in children with cochlear implants and the corresponding auditory performance.

PMID 24814232 2014 Identification of a novel splice site variant of OTOF in the Korean nonsyndromic hearing loss population with low prevalence of the OTOF mutations.

PMID 28766844 2018 Timing of cochlear implantation in auditory neuropathy patients with OTOF mutations: Our experience with 10 patients.

PMID 20224275 2010 Mutations in the OTOF gene in Taiwanese patients with auditory neuropathy.

PMID 16371502 2006 OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.

PMID 18381613 2008 A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.

PMID 27018795 2016 Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.

PMID 16097006 2005 A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy.

PMID 12127154 2002 Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.

PMID 16283880 2005 Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.

PMID 10192385 1999 A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.

PMID 26437881 2016 Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.

PMID 20504331 2010 Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy.

PMID 20230791 2010 Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!

PMID 14635104 2003 Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).

PMID 12114484 2002 Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss.

rs879255246 in OTOF gene and Nonsyndromic Deafness PMID 27082237 2016 Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).