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International Journal of Systems Biology and Bioinformatics

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ArticleOpen Access http://dx.doi.org/10.26855/ijsbb.2025.12.005

Application of Deafness Gene Detection in Diagnosis and Genetic Counseling of Hereditary Deafness

Shuo'an Zhou, Danhong Kong, Qingchun Huang, Xiuyuan Yan, Weitong Huang*

Nanning maternal and child health care hospital, Nanning 530001, Guangxi, China.

*Corresponding author: Weitong Huang

Published: November 26,2025

Abstract

Objective To explore the clinical value and genetic counseling value of deafness gene diagnosis in the diagnosis of hereditary deafness. Methods the study samples were selected from January 2021 to December 2021. 100 voluntary gene testers were studied in our hospital, and genetic counseling was provided to count the test results. Results 23 patients carried gene mutations, 1 GJB2 - 167delt homozygous mutation, 8 compound heterozygous mutations and 2 double hetero-zygous mutations. 12 cases of heterozygous mutation. Conclusion the implementation of deafness gene detection in the diagnosis of hereditary deafness can clarify the mutation type and the occurrence probability of deafness in offspring, and provide reference for subsequent marriage and childbirth, which has important clinical value.

Keywords

Hereditary deafness; Gene testing; Prenatal testing; Genetic counseling; Gene mu-tation

References

[1] Zhang HY, Zhang N, Zhang H, et al. Application of deafness gene testing in the diagnosis and genetic counseling of hereditary deafness. Chin J Otol. 2016;14(5):639-43.

[2] Gao M, Pan RR, Dai XY, et al. Study on gene testing and follow-up services for common hereditary deafness in 1737 pregnant women. Chin J Otol. 2019;17(5):620-4.

[3] Wang QQ, Huang SS, Yuan YY, et al. Clinical application of third-generation sequencing technology in the detection of copy number variation in genes for hereditary deafness. Chin J Otol. 2021;19(2):227-31.

[4] Kang HF, Zhao KH, Kong XD. Genetic testing of a family with autosomal dominant nonsyndromic deafness DFNA15. Chin J Med Genet. 2021;38(7):639-42.

[5] Xu MJ, Zhang HQ, Li CY, et al. Analysis of gene screening results for common hereditary deafness in 11,055 women of childbearing age in Chenzhou City. Chin J Otol. 2020;18(2):342-7.

[6] Huang LL, Wu YL, Lin N, et al. Microarray chip screening and genetic counseling for deafness genes in preconception populations in some areas of Jiangsu Province. J Audiol Speech Pathol. 2018;26(6):590-5.

[7] Ma N, Yang X, Peng W, et al. Application of hereditary deafness gene chip in newborn deafness gene screening. Chin J Fam Plan. 2017;25(9):618-20.

[8] Ma N, Zhang ZG. Detection and risk analysis of hereditary deafness. Int J Biomed Eng. 2006;29(6):365-8.

[9] Fang Y, Wang CX, Suo F, Liu XH. Combined application of gene chip detection technology and gene sequencing technology in prenatal diagnosis of hereditary deafness. Shandong Med J. 2015;55(47).

[10] Li F, Ning XL, Chen HL. Application of dried blood spot deafness gene detection in the diagnosis of neonatal he-reditary deafness in Maoming area. Hainan Med J. 2020;31(3).

[11] Li L, Huang CY, Kang YL, et al. Clinical application of deafness gene testing in the diagnosis of lateonset hereditary deafness. Ningxia Med J. 2016;38(11).

[12] Meng JH, Peng YL, Luo XY. The value of hearing screening combined with genetic testing for hereditary deafness in diagnosing neonatal hearing impairment. Chin J Eugenics Genet. 2019.

[13] Zhu YQ, Zhou WH. Advances in the application of hearing screening and gene testing in the diagnosis and treat-ment of hereditary deafness. Chin J Neonatol (Chin Engl). 2021;36(6).

[14] Kafle S. Screening study of deafness genes in congenital deaf children in Yangzhou City and establishment of preimplantation genetic diagnosis technology for hereditary deafness [dissertation]. Yangzhou: Yangzhou Univer-sity; 2016.

[15] Feng XL, Shen H, Li B, et al. Gene detection and clinical analysis of hereditary deafness. Int J Genet. 2021;44(3).

[16] Wang HY. Application of target region capture combined with high-throughput sequencing in hereditary deafness [dissertation]. Beijing: Med Coll Chin PLA; 2015.

Copyright

© 2025 by the author(s).
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution-NonCommercial-NoDerivatives (CC BY-NC-ND) license, which permits non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited and is not modified or adapted.
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How to cite this paper

Application of Deafness Gene Detection in Diagnosis and Genetic Counseling of Hereditary Deafness

How to cite this paper: Shuo'an Zhou, Danhong Kong, Qingchun Huang, Xiuyuan Yan, Weitong Huang. (2025). Application of Deafness Gene Detection in Diagnosis and Genetic Counseling of Hereditary Deafness. International Journal of Systems Biology and Bioinformatics1(1), 18-21.

DOI: http://dx.doi.org/10.26855/ijsbb.2025.12.005