Analysis on trend of hearing changes in infants with p.V37I mutation in GJB2 gene at different months of age.
10.13201/j.issn.2096-7993.2025.01.003
- Author:
Shan GAO
1
;
Cheng WEN
1
;
Yiding YU
1
;
Yue LI
1
;
Lin DENG
1
;
Yu RUAN
1
;
Jinge XIE
1
;
Lihui HUANG
1
Author Information
1. Department of Otolaryngology Head and Neck Surgery，Beijing Tongren Hospital，Capital Medical University，Beijing Institute of Otolaryngology，Key Laboratory of Otolaryngology Head and Neck Surgery，Capital Medical University，Ministry of Education，Beijing，100005，China.
- Publication Type:Journal Article
- Keywords:
GJB2 gene;
hearing loss;
mutation;
p.V37I
- MeSH:
Humans;
Connexin 26;
Male;
Female;
Infant;
Child, Preschool;
Mutation;
Evoked Potentials, Auditory, Brain Stem;
Connexins/genetics*;
Auditory Threshold;
Hearing/genetics*;
Hearing Loss/genetics*
- From:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
2025;39(1):10-18
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the trend of hearing changes in infants with GJB2 gene p.V37I mutation at different months. Methods:The subjects were 54 children（108 ears） with p.V37I homozygous or compound heterozygous mutation in GJB2 gene. All the subjects underwent auditory brainstem response, auditory steady-state response, acoustic immittance and other audiological tests. Children were divided into three groups according to their age, 26 cases in group A were ≤3 months old, 17 cases in group B were>3~≤6 months old, and 11 cases in group C were>6 months old. Statistical analysis was performed on the three groups of ABR response threshold, hearing degree, the ASSR average response threshold of four frequencies and the ASSR response thresholds for each frequency of 500, 1 000, 2 000 and 4 000 Hz. Results:Among the 54 cases, 35 were male and 19 were female, with an age rang of 2-27 months and a median age of 4 months. The ABR response threshold of the three groups were ranked from low to high as group A, group B and group C, and the difference was statistically significant（P<0.05）. The ABR response thresholds of the three groups were ranked from low to high as group A, group B, and group C. The comparison between groups showed that the ABR response thresholds of group C was higher than that of group A（P=0.006）. The proportion of confirmed hearing loss in the three groups was 34.61%, 50.00% and 63.64%, respectively, and the difference of hearing level among the three groups was statistically significant（P<0.05）. The comparison between groups showed that the difference between group A and group C was statistically significant（P=0.012）, normal hearing accounted for the highest proportion in group A（65.39%）, while mild hearing loss accounted for the highest proportion in group C（45.46%）. The ASSR average response thresholds of the four frequencies in the three groups were ranked from low to high as group A, group B and group C, and the difference is statistically significant（P<0.05）. The comparison between groups showed that response ASSR thresholds of group C was higher than that of group A（P=0.002）. Response thresholds of ASSR in each frequency in the three groups were all ranked from low to high as in group A, group B and group C, and the differences were statistically significant（P<0.05）. Compared with each other between groups, response ASSR thresholds of group C was higher than those of group A（P=0.003） and group B（P=0.015） at 500 Hz, while response ASSR thresholds of group C was higher than group A at 1 000 Hz（P=0.010） and 2 000 Hz（P<0.001）, and there was no statistical difference at 4 000 Hz. Conclusion:The incidence of hearing loss in GJB2 gene p.V37I mutation increased with age, and the degree of hearing loss increased, the hearing progression was mainly 500, 1 000 and 2 000 Hz suggesting regular follow-up and alert to hearing changes.
