title: Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III.
abstract: OBJECTIVE
  To analyze the clinical manifestations and genetic features of patients with hearing loss (HL) and incomplete partition (IP) type III malformation, and to evaluate speech performance after cochlear implantation (CI) in these patients.
  
  
  METHODS
  Individual retrospective cohort study.
  
  
  METHODS
  Of 206 probands with inner ear malformations (IEMs), we constructed a homogeneous cohort of 11 genetically documented IP type III (DFNX2). Mutations affecting POU3F4 were classified as extension (n = 2), truncation (n = 3), large genomic deletion (n = 2), or missense substitution (n = 4). Postoperative outcomes were rigorously assessed with focus on POU3F4 genotypes and compared with 80 age-matched implantees without IEMs.
  
  
  RESULTS
  HL in our cohort was prelingual in onset irrespective of degree. Serviceable hearing was obtained by wearing conventional hearing aids in three, and eight subjects required CI. No correlation was found between mutation types and initial auditory phenotype. As for the eight cochlear implantees, average Categories of Auditory Perception score was <1 preoperatively and 3.9 at 2 years post-CI. Speech performances improved over the first 3 months postoperatively in a manner comparable to implantees without IEMs. However, it then tended to slow down until 1 year postoperatively, leading to worse scores at 2 years than implantees without IEMs. Furthermore, this was more evident in those with a truncation or deletion mutation.
  
  
  CONCLUSIONS
  CI surgeons should be aware that postoperative auditory performance may be not as good in IP type III patients as in patients without IEMs. In particular, our study implies that certain types of POU3F4 mutations may have poorer prognoses than other types after CI.
  
  
  METHODS
  4. Laryngoscope, 126:E123-E128, 2016.
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seongnam, South Korea.
authors.forename: Byung Yoon
authors.initials: BY
authors.lastname: Choi
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Eulji University School of Medicine, Seoul, South Korea.
authors.forename: Yong-Hwi
authors.initials: YH
authors.lastname: An
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seongnam, South Korea.
authors.forename: Jae-Jin
authors.initials: JJ
authors.lastname: Song
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seongnam, South Korea.
authors.forename: Ja-Won
authors.initials: JW
authors.lastname: Koo
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul, South Korea.
authors.forename: Jun Ho
authors.initials: JH
authors.lastname: Lee
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul, South Korea.
authors.forename: Seung Ha
authors.initials: SH
authors.lastname: Oh
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul, South Korea.
authors.forename: Sun O
authors.initials: SO
authors.lastname: Chang
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul, South Korea.
authors.forename: Chong Sun
authors.initials: CS
authors.lastname: Kim
authors.affiliation: Department of Otorhinolaryngology-Head and Neck Surgery, Dongguk University Ilsan Hospital, Goyang, South Korea.
authors.forename: Joo Hyun
authors.initials: JH
authors.lastname: Park
mesh_terms: D001299:Audiometry / Q000379:methods; D001307:Auditory Perception / Q000235:genetics / Q000502:physiology; D016022:Case-Control Studies; D002675:Child, Preschool; D019929:Cochlear Implantation / Q000379:methods*; D015331:Cohort Studies; D003638:Deafness / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006314:Hearing Loss, Conductive / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D050809:POU Domain Factors / Q000235:genetics*; D010641:Phenotype; D056910:Republic of Korea; D012189:Retrospective Studies; D018570:Risk Assessment; D012720:Severity of Illness Index; D018709:Statistics, Nonparametric; D016896:Treatment Outcome; D014722:Vestibule, Labyrinth / Q000002:abnormalities*
chemical_list: D050809:POU Domain Factors; C091774:POU3F4 protein, human
keywords: Hearing loss; POU3F4; cochlear implantation; incomplete partition type III; inner ear malformation