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Facial nerve stimulation following cochlear implantation for X-linked stapes gusher syndrome leading to identification of a novel POU3F4 mutation.

Int. J. Pediatr. Otorhinolaryngol.2016 Dec;91:121-123. Epub 2016 Oct 06
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摘要


We report a case of a nine-year-old male who presented with facial nerve stimulation four years after cochlear implantation. Computed tomography was performed revealing a dilated internal auditory meatus and the cochlear implant electrode was found to be protruding into the fallopian canal at the level of the geniculate ganglion. Subsequent genetic analysis demonstrated X-linked deafness type 2 (DFNX2) caused by a novel c.769C > T nucleotide change in the POU domain, class 3, transcription factor 4 gene (POU3F4). Inactivation of electrodes 1 and 19-21 successfully abated facial nerve stimulation.

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