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Multicenter Study
. 2019 Aug;15(2):247-252.
doi: 10.5152/iao.2019.6512.

Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China

Ying Lin  1 , Feng Yu  1 , Yuelong Jiao  1 , Feng Zhou  1
Affiliations
Multicenter Study

Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China

Ying Lin et al. J Int Adv Otol. 2019 Aug.

Abstract

Objectives: To explore the characteristics of variations in patients with nonsyndromic hearing impairment (NSHI) in Southern China to supply a theoretical basis for screening, intervention, and prevention.

Materials and methods: A total of 634 hearing-impaired students from the special schools for the deaf and 220 normal-hearing individuals in South China were tested using an allele-specific polymerase chain reaction-based universal array, and the screened SLC26A4 mutation carrier was examined using computed tomography. The pathogenesis of deafness was analyzed using pathography and objective hearing tests.

Results: In total, 151 patients with NSHI carried pathogenic mutations in the screening chip, and the carrier rate was 23.82% (151/634) in the studied population. Of the 151 screened carriers, 65 (10.25%) patients harbored homozygous or homoplasmy mutated genes associated with autosomal recessive hearing loss; 36 (5.68%) patients with mutant alleles were homozygous for the GJB2 c.235delC mutation and 27 (4.26%) were heterozygous. Furthermore, 18 (2.84%) patients were homozygous with mutant alleles for the SLC26A4 c.919-2A>G mutation and 43 (6.78%) were heterozygous; 7 (1.10%) patients were homoplasmy mutation carriers of MT-RNR1 gene. There was 1 SLC26A4 c.919-2A>G and 1 GJB2 c.235delC heterozygous mutant allele in the group of 220 normal-hearing individuals.

Conclusion: GJB2 and SLC26A4 were much more prevalent than MT-RNR1 and GJB3 in South China according to this gene chip. Minuscule differences in the mutation spectrum or prevalence of GJB2 c.235delC and SLC26A4 c.919-2A>G were found in our study; furthermore, a relatively high incidence of variations was observed among these individuals with NSHI.

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Conflict of interest statement

Conflict of Interest: The authors have no conflict of interest to declare.

Figures

Figure 1
Figure 1
Distribution of gene mutations in patients with NSHI.
Figure 2
Figure 2
Constitute of the common locus in 151 screened carriers.
Figure 3
Figure 3
Mutation carriers versus no mentioned carriers in the two groups.
Figure 4
Figure 4
Bilateral enlarged vestibular aqueducts.
Figure 5
Figure 5
Bilateral Mondini malformations.
See this image and copyright information in PMC

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References

    1. Dai P, Yu F, Han B, Wu H, Yuan YY, Li Q, et al. [Features of nationwide distribution and frequency of a common gap junction beta-2 gene mutation in China]. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2007;42:804–8. - PubMed
    1. Wang GJ, Yuan YY, Han B, Huang SS, Kang DY, Zhang X, et al. Prevalence of common genetic mutations in 839 patients with severe and profound hearing loss. Chinese Journal of Otology. 2010;4:392–6.
    1. Stephens D, Gianopoulos I, Kerr P. Determination and classification of the problems experienced by hearing-impaired elderly people. Audiology. 2001;40:294–300. doi: 10.3109/00206090109073125. - DOI - PubMed
    1. Todt I, Hennies HC, Basta D, Ernst A. Vestibular dysfunction of patients with mutations of Connexin 26. Neuroreport. 2005;16:1179–81. doi: 10.1097/00001756-200508010-00009. - DOI - PubMed
    1. Popova DP, Kaneva R, Varbanova S, Popov TM. Prevalence of GBJ2 mutations in patients with severe to profound congenital nonsyndromic sensorineural hearing loss in Bulgarian population. Eur Arch Otorhinolaryngol. 2012;269:1589–92. doi: 10.1007/s00405-011-1817-2. - DOI - PubMed

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