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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

Information

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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References

1Yan, D, Liu, XZ. Cochlear molecules and hereditary deafness. Front Biosci 2008;13:4972–83CrossRefGoogle ScholarPubMed
2Hereditary Hearing Loss homepage. In: http://hereditaryhearingloss.org/ [9 July 2010]Google Scholar
3Valvassori, GE. The large vestibular aqueduct and associated anomalies in the inner ear. Otolaryngol Clin North Am 1983;16:95–101CrossRefGoogle ScholarPubMed
4Everett, LA, Glaser, B, Beck, JC, Idol, JR, Buchs, A, Heyman, M et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997;17:411–22CrossRefGoogle Scholar
5Pinto, JA, Mello, CF Jr, Marqui, AC, Perfeito, DJ, Ferreira, RD, Silva, RH. Enlarged vestibular aqueduct syndrome: report of 3 cases and literature review. Braz J Otorhinolaryngol 2005;71:386–91CrossRefGoogle ScholarPubMed
6Vivero, RJ, Fan, K, Angeli, S, Balkany, TJ, Liu, XZ. Cochlear implantation in common forms of genetic deafness. Int J Pediatr Otorhinolaryngol 2010;74:1107–12CrossRefGoogle ScholarPubMed
7Luo, X, Fu, QJ, Wei, CG, Cao, KL. Speech recognition and temporal amplitude modulation processing by Mandarin-speaking cochlear implant users. Ear Hear 2008;29:957–70CrossRefGoogle ScholarPubMed
8Luo, X, Fu, QJ, Wu, HP, Hsu, CJ. Concurrent-vowel and tone recognition by Mandarin-speaking cochlear implant users. Hear Res 2009;256:75–84CrossRefGoogle ScholarPubMed
9Wong, LL, Liu, S, Han, N. The Mainland Mandarin hearing in noise test. Int J Audiol 2008;47:393–5CrossRefGoogle ScholarPubMed
10Li, CX, Pan, Q, Guo, YG, Li, Y, Gao, HF, Zhang, D et al. Construction of a Multiplex Allele-Specific PCR-Based Universal Array (ASPUA) and its application to hearing loss screening. Hum Mutat 2008;9:306–14CrossRefGoogle Scholar
11Dai, P, Yu, F, Kang, DY, Zhang, X, Liu, X, Mi, WZ et al. Diagnostic methods and clinic application for mtDNA A1555G and GJB2 and SLC26A4 genes in deaf patients [in Chinese]. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2005;40:769–73Google ScholarPubMed
12Hu, H, Wu, L, Feng, Y, Pan, Q, Long, Z, Li, J et al. Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum [in Chinese]. J Hum Genet 2007;52:492–7CrossRefGoogle ScholarPubMed
13Albert, S, Blons, H, Jonard, L, Feldmann, D, Chauvin, P, Loundon, N et al. SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet 2006;14:773–9CrossRefGoogle ScholarPubMed
14Reyes, S, Wang, G, Ouyang, X, Han, B, Du, LL, Yuan, HJ et al. Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct. Otolaryngol Head Neck Surg 2009;141:502–8CrossRefGoogle ScholarPubMed
15Jiang, L, Feng, Y, Chen, H, He, C, Mei, L. An investigation of SLC26A4 gene mutation in nonsyndromic hearing impairment in Hunan province of China [in Chinese]. Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2010;24:587–91Google ScholarPubMed
16Scott, DA, Wang, R, Kreman, TM, Andrews, M, McDonald, JM, Bishop, JR et al. Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). Hum Mol Genet 2000;9:1709–15CrossRefGoogle ScholarPubMed
17Taylor, JP, Metcalfe, RA, Watson, PF, Weetman, AP, Trembath, RC. Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome. J Clin Endocrinol Metab 2002;87:1778–84CrossRefGoogle ScholarPubMed
18Yang, T, Vidarsson, H, Rodrigo-Blomqvist, S, Rosengren, SS, Enerback, S, Smith, RJH. Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet 2007;80:1055–63CrossRefGoogle ScholarPubMed
19Welcome to the Pendred/BOR homepage! http://www.healthcare.uiowa.edu/labs/pendredandbor [11 Dec, 2011]Google Scholar
20Ouyang, XM, Yan, D, Yuan, HJ, Pu, D, Du, LL, Han, DY et al. The genetic bases for non-syndromic hearing loss among Chinese. J Hum Genet 2009;54:131–40CrossRefGoogle ScholarPubMed
21Tsukamoto, K, Suzuki, H, Harada, D, Namba, A, Abe, S, Usami, S et al. Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Eur J Hum Genet 2003;11:916–22CrossRefGoogle ScholarPubMed
22Park, H-J, Shaukat, S, Liu, X-Z, Hahn, SH, Naz, S, Ghosh, M et al. Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet 2003;40:242–8CrossRefGoogle Scholar
23Wang, Q-J, Zhao, YL, Rao, SQ, Guo, YF, Yuan, H, Zong, L et al. A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. Clin Genet 2007;72:245–54CrossRefGoogle ScholarPubMed
24Choi, BY, Stewart, AK, Madeo, AC, Pryor, SP, Lenhard, S, Kittles, R et al. Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? Hum Mutat 2009;30:599–608CrossRefGoogle ScholarPubMed