Abstract
Hearing loss is both genetically and clinically heterogeneous, and pathogenic variants of over a hundred different genes are associated with this common neurosensory disorder. A relatively large number of these “deafness genes” encode myosin super family members. The evidence that pathogenic variants of human MYO3A, MYO6, MYO7A, MYO15A, MYH14 and MYH9 are associated with deafness ranges from moderate to definitive. Additional evidence for the involvement of these six myosins for normal hearing also comes from animal models, usually mouse or zebra fish, where mutations of these genes cause hearing loss and from biochemical, physiological and cell biological studies of their roles in the inner ear. This chapter focuses on these six genes for which evidence of a causative role in deafness is substantial.
| Original language | English |
|---|---|
| Title of host publication | Advances in Experimental Medicine and Biology |
| Pages | 317-330 |
| Number of pages | 14 |
| DOIs | |
| State | Published - 2020 |
Publication series
| Name | Advances in Experimental Medicine and Biology |
|---|---|
| Volume | 1239 |
| ISSN (Print) | 0065-2598 |
| ISSN (Electronic) | 2214-8019 |
Bibliographical note
Funding Information:Acknowledgements This research was supported (in part) by the Intramural Research Program of the NIH, National Institute on Deafness and Other Communication Disorders to T.B.F and by R01DC014658, R01DC012564, and S10OD025130 grants to G.I.F. We thank Dr. MhamedGrati for his critique of this chapter.
Publisher Copyright:
© 2020, This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply.
Keywords
- Deafness
- Hair cells
- Harmonin
- Hearing
- Helio gene-gun
- MYH14
- MYH9
- MYO15A
- MYO3A
- MYO6
- MYO7A
- Retinitis pigmentosa
- Shaker 2 mouse
- Stereocilia
- Usher syndrome
- Whirler mouse
ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology (all)