@article {1715, title = {Five new OTOF gene mutations and auditory neuropathy.}, journal = {Int J Pediatr Otorhinolaryngol}, volume = {74}, year = {2010}, month = {2010 May}, pages = {494-8}, abstract = {

OBJECTIVE: Purpose of this paper is to analyse OTOF gene in a series of subjects affected by auditory neuropathy.

METHODS: 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.

RESULTS AND CONCLUSIONS: 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.

}, keywords = {Auditory Diseases, Central, Deafness, Evoked Potentials, Auditory, Brain Stem, Female, Humans, Male, Membrane Proteins, Mutation, Otoacoustic Emissions, Spontaneous, Polymerase Chain Reaction}, issn = {1872-8464}, doi = {10.1016/j.ijporl.2010.02.004}, author = {Zadro, Cristina and Ciorba, Andrea and Fabris, Annalisa and Morgutti, Marcello and Trevisi, Patrizia and Gasparini, Paolo and Martini, Alessandro} }