Article
A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct.
International journal of pediatric otorhinolaryngology - 1 Apr 2018
Liang Yuan, Peng Qi, Wang Kangwei, Zhu Pengyuan, Wu Chunqiu, Rao Chunbao, Chang Jiang, Li Siping, Lu Xiaomei
Abstract excerpt
OBJECTIVES: To identity the genetic causes of hearing loss in a Han Chinese family with enlarged vestibular aqueduct syndrome. METHODS: Multiplex PCR technology combined with Ion Torrent™ next-generation sequencing technology was used to search for pathogenic mutations. A group of 1500 ethnically-matched normal hearing subjects screened for mutations in deafness-related genes using the same method in previously...
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