Article
Identification of Hearing Loss-Associated Variants of PTPRQ, MYO15A, and SERPINB6 in Pakistani Families.
BioMed research international - 1 Jan 2021
Mahmood Umair, Bukhari Shazia A, Ali Muhammad, Ahmed Zubair M, Riazuddin Saima
Abstract excerpt
The inner ear is an essential part of a well-developed and well-coordinated hearing system. However, hearing loss can make communication and interaction more difficult. Inherited hearing loss (HL) can occur from pathogenic genetic variants that negatively alter the intricate inner ear sensory mechanism. Recessively inherited forms of HL are highly heterogeneous and account for a majority of prelingual deafness....
Topics
- Alleles
- DNA Mutational Analysis
- Family
- Female
- Genetic Predisposition to Disease
- Hearing Loss
- Humans
- Male
- Models, Molecular
- Mutation
- Myosins