Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants

• Main Authors: Junfang Xue (Author), Linyi Xie (Author), Qiuchen Zheng (Author), Fen Xiong (Author), Xiedong Wu (Author), Jialin Fan (Author), Yang Zhang (Author), Dayong Wang (Author), Qiujing Zhang (Author), Qiuju Wang (Author)
• Format: Book
• Published: BMC, 2024-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background EYA4 variants are responsible for DFNA10 deafness. Due to its insidious onset and slow progression, hearing loss in autosomal dominant non-syndromic hearing loss (ADNSHL) is usually challenging to detect early in clinical settings, with limited intervention options. Genetic testi...