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

  • R Lai (a1), P Hu (a1), F Zhu (a1), G Zhu (a1), R Vivero (a2), A Peng (a1), W Wu (a1), Z Xiao (a1), X Liu (a2) and D Xie (a1)...

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.

Copyright

Corresponding author

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

References

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1Yan, D, Liu, XZ. Cochlear molecules and hereditary deafness. Front Biosci 2008;13:4972–83
2Hereditary Hearing Loss homepage. In: http://hereditaryhearingloss.org/ [9 July 2010]
3Valvassori, GE. The large vestibular aqueduct and associated anomalies in the inner ear. Otolaryngol Clin North Am 1983;16:95101
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;17:411–22
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;71:386–91
6Vivero, RJ, Fan, K, Angeli, S, Balkany, TJ, Liu, XZ. Cochlear implantation in common forms of genetic deafness. Int J Pediatr Otorhinolaryngol 2010;74:1107–12
7Luo, X, Fu, QJ, Wei, CG, Cao, KL. Speech recognition and temporal amplitude modulation processing by Mandarin-speaking cochlear implant users. Ear Hear 2008;29:957–70
8Luo, X, Fu, QJ, Wu, HP, Hsu, CJ. Concurrent-vowel and tone recognition by Mandarin-speaking cochlear implant users. Hear Res 2009;256:7584
9Wong, LL, Liu, S, Han, N. The Mainland Mandarin hearing in noise test. Int J Audiol 2008;47:393–5
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;9:306–14
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;40:769–73
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;52:492–7
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;14:773–9
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;141:502–8
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;24:587–91
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;9:1709–15
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;87:1778–84
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;80:1055–63
19Welcome to the Pendred/BOR homepage! http://www.healthcare.uiowa.edu/labs/pendredandbor [11 Dec, 2011]
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;54:131–40
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;11:916–22
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;40:242–8
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;72:245–54
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;30:599608

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