A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family

• Main Authors: Nahid Rezaie (Author), Saeedeh Sadat Ghazanfari (Author), Seyede Mahsa Mousavikia (Author), Nader Mansour Samaei (Author), Morteza Oladnabi (Author), Abdolazim Sarli (Author), Teymoor Khosravi (Author)
• Format: Knjiga
• Izdano: BMC, 2024-11-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Abstract Background Hearing Loss (HL) is the most common sensorineural condition in humans. Mutations in the TMPRSS3 gene (DNFB8/10 locus) have been linked to autosomal recessive non-syndromic hearing loss (ARNSHL). Methods Whole-exome sequencing (WES) was utilized to identify disease-causing varian...