[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
em 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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Surdez
/
Perda Auditiva Central
Limite:
Humans
Idioma:
Zh
Revista:
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
/
Lin chuang er bi yan hou tou jing wai ke za zhi
Ano de publicação:
2024
Tipo de documento:
Article
País de publicação:
China