title: Clinical, audiometric, radiologic, and genetic profiles of Southeast Asian children with hearing loss due to enlarged vestibular aqueduct.
abstract: OBJECTIVE
  Analysis of the clinical, audiometric, radiologic, and genotypic characteristics of a cohort of Southeast Asian patients with hearing loss (HL) associated with enlarged vestibular aqueduct (EVA).
  
  
  METHODS
  Ten consecutive children with sensorineural HL and EVA detected on computed tomographic scanning of the temporal bone.
  
  
  METHODS
  Audiometric, radiologic, and genetic analysis of the patient cohort of 10 children.
  
  
  METHODS
  Audiometric, radiologic analysis.Genetic analysis to assess for the presence of Connexin 26, Connexin 30, A1555G, and Pendrin gene variants.
  
  
  RESULTS
  The novel 1693insA and 1521delT variants were identified in our study group. When both loci were considered simultaneously, 8 (80%) of 10 patients studied carried variants in either the pendrin (n = 5) or connexin 26 (n = 6) genes. When analyzing (using the Mann-Whitney U test) for a correlation between an increased probability of either a larger VA, bilateral EVA, or higher rate of progression of HL in the presence of pendrin or connexin 26 gene variants (as opposed to the absence of these variants), there was no statistically significant difference found. This differs from other studies where there was a significantly wider VA and a wider vestibule in subjects with pendrin mutations.
  
  
  CONCLUSIONS
  There is a significant delay in the diagnosis of EVA in children with HL in our Southeast Asian population. An increased awareness of EVA as a differential diagnosis among professionals managing these children is important to reduce this delay.
authors: Otolaryngology-Head and Neck Surgery Department, National University Hospital, Singapore.
authors: Lynne
authors: L
authors: Lim
authors: Somasundaram
authors: S
authors: Subramaniam
authors: Xu
authors: X
authors: LiQing
authors: Chiea-Chuen
authors: CC
authors: Khor
authors: Denise
authors: D
authors: Goh
authors: Yeh Ing
authors: YI
authors: Berne
mesh_terms: D001210:Asia, Southeastern; D044466:Asian People / Q000235:genetics; D001299:Audiometry; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics; D005260:Female; D056426:Genetic Loci; D006319:Hearing Loss, Sensorineural / Q000000981:diagnostic imaging / Q000209:etiology* / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D011859:Radiography; D000076988:Sulfate Transporters; D014723:Vestibular Aqueduct / Q000002:abnormalities* / Q000000981:diagnostic imaging
chemical_list: D000075302:Connexin 30; D017630:Connexins; C491020:GJB6 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26