Article
A novel splice site mutation in DFNA5 causes late-onset progressive non-syndromic hearing loss in a Chinese family.
International journal of pediatric otorhinolaryngology - 1 Aug 2014
Chai Yongchuan, Chen Dongye, Wang Xiaowen, Wu Hao, Yang Tao
Abstract excerpt
OBJECTIVES: Mutations in DFNA5 may lead to autosomal dominant non-syndromic sensorineural hearing loss (NSHL). To date, only four DFNA5 mutations have been reported, all resulting in skipping of exon 8 at the mRNA level. In this study, we aim to characterize the clinical features and the genetic cause of a Chinese DFNA5 family. METHODS: Targeted next-generation sequencing of 79 known deafness genes was performed...
Topics
- Adolescent
- Asian People
- Child
- China
- Hearing Loss, Sensorineural
- Humans
- Inteins
- Mutation
- Pedigree
- RNA Splicing
- Receptors, Estrogen