Distribution characteristics and correlation analysis of GJB2 variation in patients with auditory neuropathy / 临床耳鼻咽喉头颈外科杂志
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
;
(12): 23-29, 2024.
Artículo
en Chino
| WPRIM
| ID: wpr-1011097
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 data(including pure tone audiometry, distorted otoacoustic emission, auditory brainstem response, electrocochlography), 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Conexinas
/
Sordera
/
Conexina 26
/
Pérdida Auditiva Central
/
Mutación
Límite:
Humanos
Idioma:
Chino
Revista:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
Año:
2024
Tipo del documento:
Artículo
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