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

Research output: Contribution to journalReview article

9 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)349-355
Number of pages7
JournalJournal of Laryngology and Otology
Volume126
Issue number4
DOIs
StatePublished - Apr 2012

Keywords

  • Child
  • Cochlear Implantation
  • DNA Sequence Analysis
  • Hearing Loss, Sensorineural
  • Microarray Analysis
  • Vestibular Aqueduct

ASJC Scopus subject areas

  • Otorhinolaryngology

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