Deafness genetic mutation spectrum in nonsyndromic hearing impairment associated with enlarged vestibular aqueducts
10.3969/j.issn.1006-9771.2023.01.018
- VernacularTitle:伴前庭水管扩大的非综合征性听力障碍耳聋基因突变谱研究
- Author:
Yi WANG
1
;
Zhenbo CHEN
2
;
Yong LI
3
;
Jingqiao WANG
1
;
Zhizhong LIU
1
Author Information
1. Department of Clinical Laboratory, Beijing Bo'ai Hospital, China Rehabilitation Research Center, Beijing 100068, China
2. Department of Radiology, Beijing Bo'ai Hospital, China Rehabilitation Research Center, Beijing 100068, China
3. Department of Radiology, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing 100144, China
- Publication Type:Journal Article
- Keywords:
nonsyndromic hearing impairment;
enlarged vestibular aqueducts;
gene mutation
- From:
Chinese Journal of Rehabilitation Theory and Practice
2023;29(1):119-124
- CountryChina
- Language:Chinese
-
Abstract:
ObjectiveTo investigate the deafness genetic mutation spectrum in nonsyndromic hearing impairment (NSHI) associated with enlarged vestibular aqueducts (EVA). MethodsFrom October, 2015 to August, 2016, 85 patients with NSHI from Hubei Yichang Special Education School were examined with temporal bone CT, and 20 deafness-related gene mutations in GJB2, GJB3, SLC26A4 and mtDNA 12S rRNA were detected with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. ResultsA total of 31 patients were found EVA with temporal bone CT. Compared with non-EVA patients, the proportion of deafness-related gene mutations was more in patients with EVA (χ2 = 11.160, P = 0.001), especially for c.919-2A>G mutation of SLC26A4 (χ2 = 23.870, P < 0.001). ConclusionThe deafness gene mutation spectrum is different in NSHI patients with or without EVA. It is needed to optimize genetic testing scheme for deafness for early diagnosis and intervention of NSHI associated with EVA.
