title: De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss.
abstract: OBJECTIVE
  In this report, we present a male patient with no family history of hearing loss, in whom we identified a novel de novo mutation in the POU3F4 gene.
  
  
  METHODS
  One hundred ninety-four (194) Japanese subjects from unrelated and nonconsanguineous families were enrolled in this study. We used targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes for identifying the genetic causes of hearing loss.
  
  
  RESULTS
  A novel de novo frameshift mutation of POU3F4 to c.727_728insA (p.N244KfsX26) was identified. The patient was a 7-year-old male with congenital progressive hearing loss and inner ear deformity. Although the patient had received a cochlear implant, auditory skills were still limited. The patient also exhibited developmental delays similar to those previously associated with POU3F4 mutation.
  
  
  CONCLUSIONS
  This is the first report of a mutation in POU3F4 causing hearing loss in a Japanese patient without a family history of hearing loss. This study underscores the importance of comprehensive genetic testing of patients with hearing loss for providing accurate prognostic information and guiding the optimal management of patient rehabilitation.
authors: Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
authors: Hideaki
authors: H
authors: Moteki
authors: Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
authors: A Eliot
authors: AE
authors: Shearer
authors: Department of Otolaryngology-Head and Neck Surgery, Niigata University Faculty of Medicine, Niigata, Japan.
authors: Shuji
authors: S
authors: Izumi
authors: Department of Otolaryngology-Head and Neck Surgery, Niigata University Faculty of Medicine, Niigata, Japan.
authors: Yamato
authors: Y
authors: Kubota
authors: Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
authors: Hela
authors: H
authors: Azaiez
authors: Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
authors: Kevin T
authors: KT
authors: Booth
authors: Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
authors: Christina M
authors: CM
authors: Sloan
authors: Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
authors: Diana L
authors: DL
authors: Kolbe
authors: Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
authors: Richard J H
authors: RJ
authors: Smith
authors: Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan usami@shinshu-u.ac.jp.
authors: Shin-Ichi
authors: S
authors: Usami
mesh_terms: D044466:Asian People / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D016057:Evoked Potentials, Auditory, Brain Stem; D005260:Female; D016368:Frameshift Mutation; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D050809:POU Domain Factors / Q000235:genetics*
chemical_list: D050809:POU Domain Factors; C091774:POU3F4 protein, human
keywords: POU3F4; cochlear implant; genetics; hearing loss; massively parallel sequencing