Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
  1. Home
  2. Search

Refine search

Refine search

Access:
Content type:
Publication date:
Apply   From and To filters
Subject: Show more
Journals Show more
Publishers: Show more
Societies Show more
Series: Show more
Collections: Show more

Actions for selected content:

Select all | Deselect all
  • View selected items
  • Export citations
  • Download PDF (zip)
  • Save to Kindle
  • Save to Dropbox
  • Save to Google Drive

Save Search

You can save your searches here and later view and run them again in "My saved searches".

Please provide a title, maximum of 40 characters.
Cancel
×

2 results

  • Genetic diagnosis and cochlear implantation for patients with nonsyndromic hearing loss and enlarged vestibular aqueduct

  • R Lai, P Hu, F Zhu, G Zhu, R Vivero, A Peng, W Wu, Z Xiao, X Liu, D Xie
  • Journal:
    The Journal of Laryngology & Otology / Volume 126 / Issue 4 / April 2012
    Published online by Cambridge University Press:
    31 January 2012, pp. 349-355
    Print publication:
    April 2012
  • Objective:

    To review the genotype and cochlear implantation outcome of patients with nonsyndromic hearing loss and enlarged vestibular aqueduct.

    Methods:

    Twenty-one Chinese children with nonsyndromic hearing loss and enlarged vestibular aqueduct underwent genetic examination. A DNA microarray was used to screen for the IVS7-2A>G and H723R mutations. Any DNA samples with one or none of the two mutant alleles were sequenced to detect other mutations in the SLC26A4 and FOXI1 genes.

    Results:

    Twelve SLC26A4 mutations were detected, including three novel mutations. The most common mutations detected were IVS7-2A>G and H723R. Twelve patients received cochlear implants, and subsequently demonstrated excellent speech perception.

    Conclusion:

    Three novel mutations were detected in Chinese patients with nonsyndromic hearing loss and enlarged vestibular aqueduct. The SLC26A4 mutation spectrum in the Chinese population is similar to that in other East Asian populations. Cochlear implantation is a safe and effective treatment in patients with enlarged vestibular aqueduct.