Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2021 Mar;35(3):274-281.
doi: 10.13201/j.issn.2096-7993.2021.03.020.

[The value of genetic diagnosis of deafness in evaluating the prognosis of cochlear implantation]

[Article in Chinese]
Huimin Zhang, Sen Chen, Yu Sun, Weijia Kong

[The value of genetic diagnosis of deafness in evaluating the prognosis of cochlear implantation]

[Article in Chinese]
Huimin Zhang et al. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2021 Mar.

Abstract

Congenital deafness is known as the most common birth defect, and most sufferers from it manifest sensorineural hearing loss （SNHL）, with hereditary factors responsible for approximately 60% of the cases of deafness. At present, cochlear implantation （CI） is regarded as the most mature and effective solution to treating severe and extremely severe SNHL. However, the outcome of implantation varies due to different genetic factors. With whole genome sequencing advancing, more deafness mutant genes and their types have been identified, which is conducive to clarifying the efficacy of CI in the patients with different mutations for clinical practice. This paper is aimed to summarize the different effects of CI on hereditary deafness and the potential mechanism discovered in recent years, and to clarify the role played by the genetic diagnosis of deafness in evaluating the efficacy of cochlear implantation.

Keywords: cochlear implantation; congenital deafness; genetic diagnosis.

PubMed Disclaimer

Conflict of interest statement

The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose.

Figures

图 1
图 1
致聋基因表达及编码蛋白在内耳中的主要分布
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. 苏 钰, 戴 朴. 耳聋基因诊断在人工耳蜗植入中的应用. 中华耳科学杂志. 2018;16(6):785–790. doi: 10.3969/j.issn.1672-2922.2018.06.009. - DOI
    1. Liu W, Edin F, Blom H, et al. Super-resolution structured illumination fluorescence microscopy of the lateral wall of the cochlea: the Connexin26/30 proteins are separately expressed in man. Cell Tissue Res. 2016;365(1):13–27. doi: 10.1007/s00441-016-2359-0. - DOI - PubMed
    1. Cohen-Salmon M, Ott T, Michel V, et al. Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death. Curr Biol. 2002;12(13):1106–1111. doi: 10.1016/S0960-9822(02)00904-1. - DOI - PMC - PubMed
    1. Chen S, Sun Y, Lin X, et al. Down regulated connexin26 at different postnatal stage displayed different types of cellular degeneration and formation of organ of Corti. Biochem Biophys Res Commun. 2014;445(1):71–77. doi: 10.1016/j.bbrc.2014.01.154. - DOI - PubMed
    1. Roux I, Safieddine S, Nouvian R, et al. Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. Cell. 2006;127(2):277–289. doi: 10.1016/j.cell.2006.08.040. - DOI - PubMed

LinkOut - more resources