[Distribution characteristics and correlation analysis of GJB2 variation in patients with auditory neuropathy].
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
; 38(1): 23-29, 2024 Jan.
Article
in Zh
| MEDLINE
| ID: mdl-38297845
ABSTRACT
Objective:
To elucidate the correlation between the GJB2 gene and auditory neuropathy, aiming to provide valuable insights for genetic counseling of affected individuals and their families.Methods:
The general information, audiological dataï¼including pure tone audiometry, distorted otoacoustic emission, auditory brainstem response, electrocochlographyï¼, imaging data and genetic test data of 117 auditory neuropathy patients, and the patients with GJB2 gene mutation were screened out for the correlation analysis of auditory neuropathy.Results:
Total of 16 patients were found to have GJB2 gene mutations, all of which were pathogenic or likely pathogenic.was Among them, one patient had compound heterozygous variants GJB2[c. 427C>T][c. 358_360del], exhibiting total deafness. One was GJB2[c. 299_300delAT][c. 35_36insG]compound heterozygous variants, the audiological findings were severe hearing loss.The remaining 14 patients with GJB2 gene variants exhibited typical auditory neuropathy.Conclusion:
In this study, the relationship between GJB2 gene and auditory neuropathy was preliminarily analyzed,and explained the possible pathogenic mechanism of GJB2 gene variants that may be related to auditory neuropathy.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Deafness
/
Hearing Loss, Central
Limits:
Humans
Language:
Zh
Journal:
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Year:
2024
Document type:
Article
Country of publication:
China