A novel missense mutation in a C2 domain ofOTOF results in autosomal recessive auditory neuropathy
Copyright policy )A novel missense mutation in a C2 domain ofOTOF results in autosomal recessive auditory neuropathy
Screening of 12 Turkish families with apparently autosomal recessive nonsyndromic sensorineural deafness without GJB2 and mtDNA m.1555A > G mutations for 11 previously mapped recessive deafness loci showed a family in which hearing loss cosegregated with the DFNB9 (OTOF) locus. Three affected children were later found to carry a novel homozygous c.3032T > C (p.Leu1011Pro) mutation in the OTOF gene. Both parents were heterozygous for the mutation. p.Leu1011Pro alters a conserved leucine residue in the C2D domain of otoferlin. Pure tone audiometry of the family showed severe to profound sensorineural hearing loss (with U-shape audiograms) in children, and normal hearing in the parents. Otoacoustic emissions and auditory brainstem response (ABR) suggested the presence of auditory neuropathy in affected individuals.
- Ankara University Turkey
Family Health, Male, Binding Sites, Base Sequence, Sequence Homology, Amino Acid, Hearing Loss, Sensorineural, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Membrane Proteins, Genes, Recessive, Polymerase Chain Reaction, Connexins, Pedigree, Connexin 26, Humans, Female, Amino Acid Sequence, Child, Polymorphism, Single-Stranded Conformational
Family Health, Male, Binding Sites, Base Sequence, Sequence Homology, Amino Acid, Hearing Loss, Sensorineural, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Membrane Proteins, Genes, Recessive, Polymerase Chain Reaction, Connexins, Pedigree, Connexin 26, Humans, Female, Amino Acid Sequence, Child, Polymorphism, Single-Stranded Conformational
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