title: Frequency and specific characteristics of the incomplete partition type III anomaly in children.
abstract: To determine the frequency of the incomplete partition type III anomaly and the genetic and clinical features associated with POU3F4 mutations in children with hearing loss.
  
  
  
  Retrospective case series from 2000 to 2014 at the National Hospital Organization Tokyo Medical Center and collaborating hospitals.
  
  
  
  A total of 1,004 patients (from 938 families) who had hearing loss by 10 years of age and had undergone computed tomography scanning of their temporal bones were enrolled in this genetic, clinical, and radiological study.
  
  
  
  The incomplete partition type III anomaly was identified in six patients (0.6%), each of whom had an enlargement of the vestibular aqueduct at the end close to the vestibule. The six patients also had POU3F4 variants, and a genetic analysis revealed frameshift deletions in three patients, a missense variant in two patients of the same family, and a large deletion in one patient. Three of the six patients with POU3F4 variants were sporadic cases, and in one patient the genetic mutation occurred de novo.
  
  
  
  It was indicated that POU3F4 mutations can be predicted by incomplete partition type III anomaly by radiological examination of the inner ear. All six of the patients showed mixed hearing loss, but none showed fluctuations in hearing, which may be related to the lack of vestibular aqueduct enlargement at the operculum.
  
  
  
  4 Laryngoscope, 127:1663-1669, 2017.
authors: Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.|Department of Otolaryngology, Inagi Municipal Hospital, Tokyo, Japan.|Department of Otolaryngology, Keio University School of Medicine, Tokyo, Japan.
authors: Ayako
authors: A
authors: Kanno
authors: Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
authors: Hideki
authors: H
authors: Mutai
authors: Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
authors: Kazunori
authors: K
authors: Namba
authors: Department of Otolaryngology, Kobari General Hospital, Chiba, Japan.
authors: Noriko
authors: N
authors: Morita
authors: Division of Otolaryngology, Chiba Children's Hospital, Chiba, Japan.
authors: Atsuko
authors: A
authors: Nakano
authors: Department of Otorhinolaryngology, Kanagawa Children's Medical Center, Kanagawa, Japan.
authors: Noboru
authors: N
authors: Ogahara
authors: Department of Otolaryngology, Kanto Rosai Hospital, Kanagawa, Japan.
authors: Tomoko
authors: T
authors: Sugiuchi
authors: Department of Otolaryngology, Keio University School of Medicine, Tokyo, Japan.
authors: Kaoru
authors: K
authors: Ogawa
authors: Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.|Medical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
authors: Tatsuo
authors: T
authors: Matsunaga
mesh_terms: D002648:Child; D002675:Child, Preschool; D003051:Cochlea / Q000002:abnormalities* / Q000000981:diagnostic imaging; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D046089:Hearing Loss, Mixed Conductive-Sensorineural / Q000000981:diagnostic imaging* / Q000235:genetics*; D006801:Humans; D008297:Male; D050809:POU Domain Factors / Q000235:genetics*; D010375:Pedigree; D012189:Retrospective Studies; D014041:Tokyo; D014057:Tomography, X-Ray Computed; D014723:Vestibular Aqueduct / Q000002:abnormalities / Q000000981:diagnostic imaging
chemical_list: D050809:POU Domain Factors; C091774:POU3F4 protein, human
keywords: Frequency; POU3F4; genetics; incomplete partition type III anomaly; pediatric hearing loss; radiological study