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 language | English |
|---|---|
| Pages (from-to) | 349-355 |
| Number of pages | 7 |
| Journal | Journal of Laryngology and Otology |
| Volume | 126 |
| Issue number | 4 |
| DOIs | |
| State | Published - Apr 1 2012 |
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Keywords
- Child
- Cochlear Implantation
- DNA Sequence Analysis
- Hearing Loss, Sensorineural
- Microarray Analysis
- Vestibular Aqueduct
ASJC Scopus subject areas
- Otorhinolaryngology
Cite this
Genetic diagnosis and cochlear implantation for patients with nonsyndromic hearing loss and enlarged vestibular aqueduct. / Lai, R.; Hu, P.; Zhu, F.; Zhu, G.; Vivero, R.; Peng, A.; Wu, W.; Xiao, Z.; Liu, Xue Z; Xie, D.
In: Journal of Laryngology and Otology, Vol. 126, No. 4, 01.04.2012, p. 349-355.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Genetic diagnosis and cochlear implantation for patients with nonsyndromic hearing loss and enlarged vestibular aqueduct
AU - Lai, R.
AU - Hu, P.
AU - Zhu, F.
AU - Zhu, G.
AU - Vivero, R.
AU - Peng, A.
AU - Wu, W.
AU - Xiao, Z.
AU - Liu, Xue Z
AU - Xie, D.
PY - 2012/4/1
Y1 - 2012/4/1
N2 - 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.
AB - 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.
KW - Child
KW - Cochlear Implantation
KW - DNA Sequence Analysis
KW - Hearing Loss, Sensorineural
KW - Microarray Analysis
KW - Vestibular Aqueduct
UR - http://www.scopus.com/inward/record.url?scp=84859128439&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84859128439&partnerID=8YFLogxK
U2 - 10.1017/S002221511100346X
DO - 10.1017/S002221511100346X
M3 - Article
C2 - 22289209
AN - SCOPUS:84859128439
VL - 126
SP - 349
EP - 355
JO - Journal of Laryngology and Otology
JF - Journal of Laryngology and Otology
SN - 0022-2151
IS - 4
ER -