Facial nerve stimulation following cochlear implantation for X-linked stapes gusher syndrome leading to identification of a novel POU3F4 mutation. (December 2016)

• Record Type: Journal Article
• Authors: Wester, Jacob L.; Merna, Catherine; Peng, Kevin A.; Lewis, Rebecca; Sepahdari, Ali R.; Ishiyama, Gail; Hosokawa, Kumiko; Kumakawa, Kozo; Ishiyama, Akira
• Is Part Of: International journal of pediatric otorhinolaryngology. Volume 91(2016:Dec.)
• Page Start: 121
• Page End: 123
• Publication Date: 2016-12
• Subjects: Otology -- X-linked stapes gusher syndrome -- Genetics -- Cochlear implant; Otolaryngology -- Periodicals; Pediatrics -- Periodicals; Otolaryngology -- Periodicals; Pediatrics -- Periodicals; Oto-rhino-laryngologie -- Périodiques; Pédiatrie -- Périodiques; 618.9209751
• DOI: 10.1016/j.ijporl.2016.10.003
• Languages: English
• ISSNs: 0165-5876

Abstract

Abstract: 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.