Screening and analysis of mutation hot-spots in deafness-associated genes among adolescents with hearing loss

Jiang,Hong; Liu,Qizhen; Chen,Lihong

doi:10.3892/mmr.2015.4475

Screening and analysis of mutation hot-spots in deafness-associated genes among adolescents with hearing loss

Authors:
- Hong Jiang
- Qizhen Liu
- Lihong Chen
View Affiliations

Affiliations: Department of Otolaryngology ‑ Head and Neck Surgery, Yongchuan Hospital, Chongqing Medical University, Chongqing 402160, P.R. China
Published online on: October 23, 2015 https://doi.org/10.3892/mmr.2015.4475
Pages: 8179-8184

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )

Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )

Cited By (CrossRef): 0 citations Loading Articles...

Abstract

The present study aimed to screen the hot-spot deafness gene mutations of adolescents with non‑syndromic hearing loss in Yongchuan, Chongqing (CQ-YC ANSHL), aiming to preliminarily understand the region's spectrum and occurrence frequency of deafness gene mutation hot‑spots. A total of 60 CQ‑YC ANSHL were selected from the Special Education School of Yongchuan, Chongqing and the nine most common mutations of four deafness genes among the Chinese population were detected and associated with the patients' medical history as well as family history of deafness. Deafness gene mutations were detected in 22 cases, among which the detection rates of GJB2, mitochondrial 12S ribosomal ribonucleic acid and SLC26A4 mutations were 23.73% (14/59), 10.17% (6/59) and 5.08% (3/59), respectively, while no GJB3 mutation was detected. The carrying rate of deafness gene mutations in CQ‑YC ANSHL was high; therefore, based on the deafness gene diagnosis, the combination of medication guidance, pre‑natal diagnosis and clinical interventions may be able to effectively reduce the incidence of deafness in this region.

View Figures

View References

1	Morton NE: Genetic epidemiology of hearing impairment. Ann N Y Acad Sci. 630:16–31. 1991. View Article : Google Scholar : PubMed/NCBI
2	Chen G, Wang X and Fu S: Prevalence of A1555G mitochondrial mutation in Chinese new borns and the correlation with neonatal hearing screening. Int J Pediatr Otorhinolaryngol. 75:532–534. 2011. View Article : Google Scholar : PubMed/NCBI
3	Géléoc GS and Holt JR: Sound strategies for hearing restoration. Science. 344:12410622014. View Article : Google Scholar : PubMed/NCBI
4	Taneja MK: Preimplantation genetic diagnosis: Its role in prevention of deafness. Indian J Otolaryngol Head Neck Surg. 66:1–3. 2014. View Article : Google Scholar : PubMed/NCBI
5	Dai P, Yu F, Han B, Yuan Y, Li Q, Wang G, Liu X, He J, Huang D, Kang D, et al: The prevalence of the 235delC GJB2 mutation in a Chinese deaf population. Genet Med. 9:283–289. 2007. View Article : Google Scholar : PubMed/NCBI
6	Yuan Y, You Y, Huang D, Cui J, Wang Y, Wang Q, Yu F, Kang D, Yuan H, Han D, et al: Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China. J Transl Med. 7:792009. View Article : Google Scholar : PubMed/NCBI
7	Du W, Wang Q, Zhu Y, Wang Y and Guo Y: Associations between GJB2, mitochondrial 12S rRNA, SLC26A4 mutations and hearing loss among three ethnicities. Biomed Res Int. 2014:7468382014. View Article : Google Scholar
8	Yin A, Liu C, Zhang Y, Wu J, Mai M, Ding H, Yang J and Zhang X: Genetic counseling and prenatal diagnosis for hereditary hearing loss in high-risk families. Int J Pediatr Otorhinolaryngol. 78:1356–1359. 2014. View Article : Google Scholar : PubMed/NCBI
9	Huang XH, Wang JB and Kong WJ: Practice of Otorhinolaryngology-Head and Neck Surgery. 2nd Edition. People's Medical Publishing House; Beijing: pp. p10062007, In Chinese.
10	De Keulenaer S, Hellemans J, Lefever S, Renard JP, De Schrijver J, Van de Voorde H, Tabatabaiefar MA, Van Nieuwerburgh F, Flamez D, Pattyn F, et al: Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform. BMC Med Genomics. 5:172012. View Article : Google Scholar : PubMed/NCBI
11	Yu F, Han DY, Dai P, Kang DY, Zhang X, Liu X, Zhu QW, Yuan YY, Sun Q, Xue DD, et al: Mutation of GJB2 gene in nonsyndromic hearing impairment patients: Analysis of 1190 cases. (Article in Chinese). Zhonghua Yi Xue Za Zhi. 87:2814–2819. 2007.In Chinese.
12	Kenneson A, Van Naarden Braun K and Boyle C: GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review. Genet Med. 4:258–274. 2002. View Article : Google Scholar : PubMed/NCBI
13	Chen T, Liu Q, Jiang L, Liu C and Ou Q: Mitochondrial COX2 G7598A mutation may have a modifying role in the phenotypic manifestation of aminoglycoside antibiotic-induced deafness associated with 12S rRNA A1555G mutation in a Han Chinese pedigree. Genet Test Mol Biomarkers. 17:122–130. 2013. View Article : Google Scholar :
14	Prak HJ, Shaukat S, Liu XZ, Hahn SH, Naz S, Ghosh M, Kim HN, Moon SK, Abe S, Tukamoto K, et al: Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: Global implications for the epidemiology of deafness. J Med Genet. 40:242–248. 2003. View Article : Google Scholar
15	Hutchin T, Coy N, Conlon H, Telford E, Bromelow K, Blaydon D, Taylor G, Coghill E, Brown S, Trembath R, et al: Assessment of the genetic causes of recessive childhood non-syndromic hearing loss in the UK-implications for genetic testing. Clin Genet. 68:506–512. 2005. View Article : Google Scholar : PubMed/NCBI
16	Bizanova A and Kopp P: Genetics and phenomics of pendred syndrome. Mol Cell Endocrinol. 322:83–90. 2010. View Article : Google Scholar
17	Dai P, Li Q, Huang D, Yuan Y, Kang D, Miller DT, Shao H, Zhu Q, He J, Yu F, et al: SLC26A4c.919–2A>G varies among Chinese ethnic groups as a cause of hearing loss. Genet Med. 10:586–592. 2008. View Article : Google Scholar : PubMed/NCBI
18	Jiang H, Chen J, Shan XJ, Li Y, He JG and Yang BB: Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non-syndromic hearing loss. Mol Med Rep. 10:379–386. 2014.PubMed/NCBI
19	Yuan Y, Guo W, Tang J, Zhang G, Wang G, Han M, Zhang X, Yang S, He DZ and Dai P: Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China. PLoS One. 7:e499842012. View Article : Google Scholar : PubMed/NCBI
20	Zhu YM, Guo YF, Liu XW, Wang Y, Xu B, Ji Y, Li J, Li Z and Wang Q: The hereditary etiology analysis of deaf students from Shaanxi province. J Audiol Speech Pathol. 18:225–228. 2010.
21	Alford RL, Arnos KS, Fox M, Lin JW, Palmer CG, Pandya A, Rehm HL, Robin NH, Scott DA, Yoshinaga-Itano C, et al: American college of medical genetics and genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. Genet Med. 16:347–355. 2014. View Article : Google Scholar : PubMed/NCBI
22	Levenson D: New testing guidelines for hearing loss support next-generation sequencing: Testing method may help determine genetic causes of hearing loss among patients whose phenotypes are not easily distinguished clinically. Am J Med Genet A. 164:vii–viii. 2014.