Modification factors associated with maternally inherited non-syndromic hearing loss
10.3760/cma.j.issn.1673-0860.2017.06.017
- VernacularTitle: 与母系遗传性非综合征型聋相关的修饰因子的研究
- Author:
Wenjia HONG
1
;
Binjiao ZHENG
1
;
Jinfu QIAN
1
;
Hao WU
1
;
Hao JIN
1
;
Yiting ZHU
1
Author Information
1. Department of Otorhinolaryngology, the Second Affiliated Hospital of Wenzhou Medical University, Wenzhou 325000, China
- Publication Type:Review
- Keywords:
Mitochondrial;
Genes;
Mutations;
Deafness;
Aminoglycosides
- From:
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
2017;52(6):472-477
- CountryChina
- Language:Chinese
-
Abstract:
Mutations in the mitochondrial DNA have been certified to be one of the most important causes of maternally inherited sensorineural hearing loss. Among these, mitochondrial 12S rRNA1555A>G, 1494C>T and other mutations are associated with both nonsyndromic and drug induced hearing loss caused by aminoglycosides. Individuals carrying 1555A>G or 1494C>T mutation have a variety of clinical manifestations, which implies that the 1555A>G or 1494C>T mutation is a chief factor underlying the development of deafness but insufficient to produce the clinical phenotype. Therefore other modifier factors, such as aminoglycosides, mitochondrial haplotypes, secondary mutation or nuclear modifier genes, may play an important role in the phenotypic expression of the deafness-associated mitochondrial 12S rRNA1555A>G or 1494C>T mutation. In this review, the modifier factors for the phenotypic expression of deafness-associated mitochondrial 12S rRNA1555A>G or 1494C>T mutations were summarized and proposed the pathogenesis of maternally inherited deafness.
