[HTML][HTML] Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing

G Xing, J Yao, B Wu, T Liu, Q Wei, C Liu, Y Lu… - Genetics in …, 2015 - Elsevier
Purpose Various forms of hearing loss have genetic causes, but many of the responsible
genes have not yet been identified. Here, we describe a large seven-generation Chinese
family with autosomal dominant nonsyndromic hearing loss that has been excluded as
being caused by known deafness gene mutations associated with autosomal dominant
nonsyndromic hearing loss with the aim of identifying a novel causative gene involved in
deafness. Methods Whole-exome sequencing was conducted in three affected family …