<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Zadro, Cristina</style></author><author><style face="normal" font="default" size="100%">Ciorba, Andrea</style></author><author><style face="normal" font="default" size="100%">Fabris, Annalisa</style></author><author><style face="normal" font="default" size="100%">Morgutti, Marcello</style></author><author><style face="normal" font="default" size="100%">Trevisi, Patrizia</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo</style></author><author><style face="normal" font="default" size="100%">Martini, Alessandro</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Five new OTOF gene mutations and auditory neuropathy.</style></title><secondary-title><style face="normal" font="default" size="100%">Int J Pediatr Otorhinolaryngol</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Int. J. Pediatr. Otorhinolaryngol.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Auditory Diseases, Central</style></keyword><keyword><style  face="normal" font="default" size="100%">Deafness</style></keyword><keyword><style  face="normal" font="default" size="100%">Evoked Potentials, Auditory, Brain Stem</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Membrane Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Mutation</style></keyword><keyword><style  face="normal" font="default" size="100%">Otoacoustic Emissions, Spontaneous</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymerase Chain Reaction</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2010</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2010 May</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">74</style></volume><pages><style face="normal" font="default" size="100%">494-8</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;OBJECTIVE: &lt;/b&gt;Purpose of this paper is to analyse OTOF gene in a series of subjects affected by auditory neuropathy.&lt;/p&gt;&lt;p&gt;&lt;b&gt;METHODS: &lt;/b&gt;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.&lt;/p&gt;&lt;p&gt;&lt;b&gt;RESULTS AND CONCLUSIONS: &lt;/b&gt;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.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">5</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/20211493?dopt=Abstract</style></custom1></record></records></xml>