title: Facial nerve stimulation following cochlear implantation for X-linked stapes gusher syndrome leading to identification of a novel POU3F4 mutation.
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.
authors.affiliation: Department of Head and Neck Surgery, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
authors.forename: Jacob L
authors.initials: JL
authors.lastname: Wester
authors.affiliation: Department of Head and Neck Surgery, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
authors.forename: Catherine
authors.initials: C
authors.lastname: Merna
authors.affiliation: Department of Head and Neck Surgery, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
authors.forename: Kevin A
authors.initials: KA
authors.lastname: Peng
authors.affiliation: Department of Audiology and Speech Pathology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Lewis
authors.affiliation: Department of Radiological Sciences, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
authors.forename: Ali R
authors.initials: AR
authors.lastname: Sepahdari
authors.affiliation: Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
authors.forename: Gail
authors.initials: G
authors.lastname: Ishiyama
authors.affiliation: Department of Otolaryngology, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan.
authors.forename: Kumiko
authors.initials: K
authors.lastname: Hosokawa
authors.affiliation: Department of Otolaryngology, Toranomon Hospital, Minato-ku, Tokyo, Japan.
authors.forename: Kozo
authors.initials: K
authors.lastname: Kumakawa
authors.affiliation: Department of Head and Neck Surgery, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA. Electronic address: ishiyama@ucla.edu.
authors.forename: Akira
authors.initials: A
authors.lastname: Ishiyama
mesh_terms: D002648:Child; D003054:Cochlear Implants / Q000009:adverse effects*; D004424:Ear Canal / Q000002:abnormalities; D004558:Electric Stimulation / Q000009:adverse effects*; D005154:Facial Nerve; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006314:Hearing Loss, Conductive / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D050819:Transcription Factor Brn-3A / Q000235:genetics*
chemical_list: C494188:POU4F1 protein, human; D050819:Transcription Factor Brn-3A
keywords: Cochlear implant; Genetics; Otology; X-linked stapes gusher syndrome