Five new OTOF gene mutations and auditory neuropathy
Copyright policy )Five new OTOF gene mutations and auditory neuropathy
Purpose of this paper is to analyse OTOF gene in a series of subjects affected by auditory neuropathy.Four children showing mild to profound prelingual deafness, confirmed by the absence of a clear and detectable responses at auditory brainstem responses (ABR), associated with the presence of bilateral OAE, were enrolled in the study.Genetic analysis identified five new mutations (a nonsense, a small and a large deletion and two splicing site mutations), and one missense mutation (F1795C) previously described. These results further confirm the role of OTOF gene in auditory neuropathy. In the absence of a context of neurological syndrome, the combination of absent ABR and positive OAE responses should lead to an auditory neuropathy diagnosis and to a mutational screening in OTOF.
- University of Padua Italy
- University of Ferrara Italy
- University of Trieste Italy
Male, congenital deafness; cochlear implantation; otoferlon; Auditory Neuropathy; Children; DFNB9, Otoacoustic Emissions, Spontaneous, Congenital deafne, Deafness, Polymerase Chain Reaction, Auditory neuropathy, DFNB9, Evoked Potentials, Auditory, Brain Stem, Humans, Auditory neuropathy; Children; Cochlear implantation; Congenital deafness; DFNB9; Otoferlin; Auditory Diseases, Central; Deafness; Evoked Potentials, Auditory, Brain Stem; Female; Humans; Male; Membrane Proteins; Otoacoustic Emissions, Spontaneous; Polymerase Chain Reaction; Mutation; Otorhinolaryngology2734 Pathology and Forensic Medicine; Pediatrics, Perinatology and Child Health, Deafne, Children, Membrane Protein, Auditory Diseases, Central, Otorhinolaryngology2734 Pathology and Forensic Medicine, Membrane Proteins, Cochlear implantation, Otoacoustic Emissions, Spontaneou, Pediatrics, Perinatology and Child Health, Mutation, Female, Auditory neuropathy; Children; Cochlear implantation; Congenital deafness; DFNB9, Otoferlin, Otoferlin, Human
Male, congenital deafness; cochlear implantation; otoferlon; Auditory Neuropathy; Children; DFNB9, Otoacoustic Emissions, Spontaneous, Congenital deafne, Deafness, Polymerase Chain Reaction, Auditory neuropathy, DFNB9, Evoked Potentials, Auditory, Brain Stem, Humans, Auditory neuropathy; Children; Cochlear implantation; Congenital deafness; DFNB9; Otoferlin; Auditory Diseases, Central; Deafness; Evoked Potentials, Auditory, Brain Stem; Female; Humans; Male; Membrane Proteins; Otoacoustic Emissions, Spontaneous; Polymerase Chain Reaction; Mutation; Otorhinolaryngology2734 Pathology and Forensic Medicine; Pediatrics, Perinatology and Child Health, Deafne, Children, Membrane Protein, Auditory Diseases, Central, Otorhinolaryngology2734 Pathology and Forensic Medicine, Membrane Proteins, Cochlear implantation, Otoacoustic Emissions, Spontaneou, Pediatrics, Perinatology and Child Health, Mutation, Female, Auditory neuropathy; Children; Cochlear implantation; Congenital deafness; DFNB9, Otoferlin, Otoferlin, Human
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