A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred

• Main Authors: Ashfaque Ahmed (Author), Meng Wang (Author), Rizwan Khan (Author), Abid Ali Shah (Author), Hui Guo (Author), Sajid Malik (Author), Kun Xia (Author), Zhengmao Hu (Author)
• Format: Book
• Published: BMC, 2021-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Hearing loss/deafness is a common otological disorder found in the Pakistani population due to the high prevalence of consanguineous unions, but the full range of genetic causes is still unknown. Methods A large consanguineous Pakistani kindred with hearing loss was studied. Whol...