Temperature Sensitive Auditory Neuropathy.
Beijing, China. In Hear Res, Feb 2016
Genetic analysis revealed that these three patients 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, respectively.
Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans.
Seoul, South Korea. In Korean J Audiol, 2014
The other causative genes were MRNR1, WFS1, COCH, TECTA, MYO6, COL11A2, EYA4, GJB3, OTOF, STRC, MYO3A, and GJB2.
Exocytosis and synaptic vesicle function.
Galveston, United States. In Compr Physiol, 2014
Otoferlin, another type of vesicular C2 domain protein that binds to the membrane in a Ca(2+)-dependent manner, is also involved in the Ca(2+)-triggered synaptic vesicle exocytosis in auditory hair cells.
Dominant modifier DFNM1 suppresses recessive deafness DFNB26.
Rockville, United States. In Nat Genet, 2000
So far, 30 nonsyndromic recessive deafness loci have been mapped and the defective genes at 6 loci, DFNB1, DFNB2, DFNB3, DFNB4, DFNB9 and DNFB21, have been identified, encoding connexin-26 (ref.
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.
Paris, France. In Nat Genet, 1999
Using a candidate gene approach, we identified a novel human gene, OTOF, underlying an autosomal recessive, nonsyndromic prelingual deafness, DFNB9.