Audiological Characteristics in 832 Deaf Children with Biallelic Causative Mutations in GJB2,SLC26A4 Gene
10.3969/j.issn.1006-7299.2014.02.002
- VernacularTitle:GJB2、SLC26A4基因相关耳聋儿童的听力损失特点分析
- Author:
Qingjia CUI
;
Guojian WANG
;
Yuan ZHANG
;
Ying YANG
;
Dongyang KANG
;
Yanshun DU
;
Liping ZHAO
;
Shasha HUANG
;
Wei ZHANG
;
Xibin SUN
;
Pu DAI
;
Lihui HUANG
- Publication Type:Journal Article
- Keywords:
Gene;
Mutation;
Children;
Hearing loss
- From:
Journal of Audiology and Speech Pathology
2014;(2):120-123
- CountryChina
- Language:Chinese
-
Abstract:
Objective To determine the audiological characteristics in 832 deaf children with biallelic causative mutations in GJB2 ,SLC26A4 gene .Methods The 832 patients received deafness gene screening ,553 were GJB2 gene biallelic causative mutations ,279 were SLC26A4 gene biallelic causative mutations .Patients were divided into four groups according to ages of hearing loss onset :<1 ,1~3 ,3~6 ,6~12 years old ,and the audiological character-istics and prevalence of GJB2 ,SLC26A4 gene mutations at different ages of onset .Results The prevalence of GJB2 gene mutations at four groups was 37 .97% (210/553) ,38 .34% (212/553) ,16 .27% (90/553) ,7 .41% (41/553) ,re-spectively ;the prevalence of SLC26A4 gene mutations at four groups was 25 .45% (71/279) ,44 .80% (125/279) , 20 .07% (56/279) ,9 .67% (27/279) ,respectively .The difference between GJB2 and SLC26A4 gene was significant(P=0 .001) .The prevalence of profound hearing loss with GJB2 gene mutations at four groups were 66 .67% (140/210) ,61 .32% (130/212) ,47 .78% (43/90) ,41 .46% (17/41) ,respectively .The difference was significant (P=0 .004) ,while the difference in 279 patients with SLC26A4 gene mutations was not statistically significant (P= 0 . 083) .Conclusion The age of hearing loss onset in patients with biallelic causative mutations in GJB 2 or SLC26A4 gene refers to 0~3 years -old ,hearing loss in patients with GJB2 ,SLC26A4 gene mutations gives priority to pro-found .The age of hearing loss onset is smaller ,the ratio of profound hearing loss is higher .Patients with severe and profound hearing impairment should be performed the genetic testing when the age of onset under 12 .
