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

Published online by Cambridge University Press:  31 January 2012

R Lai ,
P Hu ,
F Zhu ,
G Zhu ,
R Vivero ,
A Peng ,
W Wu ,
Z Xiao ,
X Liu  and
D Xie
R Lai
Affiliation:
Institute of Otology, Department of Otolaryngology and Head and Neck Surgery, Second Xiangya Hospital, Central South University, Changsha, China
P Hu
Affiliation:
Institute of Otology, Department of Otolaryngology and Head and Neck Surgery, Second Xiangya Hospital, Central South University, Changsha, China
F Zhu
Affiliation:
Institute of Otology, Department of Otolaryngology and Head and Neck Surgery, Second Xiangya Hospital, Central South University, Changsha, China
G Zhu
Affiliation:
Institute of Otology, Department of Otolaryngology and Head and Neck Surgery, Second Xiangya Hospital, Central South University, Changsha, China
R Vivero
Affiliation:
Department of Otolaryngology, University of Miami, Florida, USA
A Peng
Affiliation:
Institute of Otology, Department of Otolaryngology and Head and Neck Surgery, Second Xiangya Hospital, Central South University, Changsha, China
W Wu
Affiliation:
Institute of Otology, Department of Otolaryngology and Head and Neck Surgery, Second Xiangya Hospital, Central South University, Changsha, China
Z Xiao
Affiliation:
Institute of Otology, Department of Otolaryngology and Head and Neck Surgery, Second Xiangya Hospital, Central South University, Changsha, China
X Liu
Affiliation:
Department of Otolaryngology, University of Miami, Florida, USA
D Xie*
Affiliation:
Institute of Otology, Department of Otolaryngology and Head and Neck Surgery, Second Xiangya Hospital, Central South University, Changsha, China
*
Address for correspondence: Dr Dinghua Xie, Institute of Otology, Department of Otolaryngology and Head and Neck Surgery, Second Xiangya Hospital, Central South University, 139 Renmin Road, Changsha 410011, China Fax: +86 731 85606003 E-mail: dhuaxie@163.com
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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.

Keywords

Hearing Loss, SensorineuralCochlear ImplantationDNA Sequence AnalysisMicroarray AnalysisVestibular AqueductChild
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 126 , Issue 4 , April 2012 , pp. 349 - 355
Copyright
Copyright © JLO (1984) Limited 2012

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