Article
Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease.
Hearing research - 15 Sept 2021
Roman-Naranjo P, Moleon M D C, Aran I, Escalera-Balsera A, Soto-Varela A, Bächinger D, Gomez-Fiñana M, Eckhard A H, Lopez-Escamez J A
Abstract excerpt
The MYO7A gene encodes a motor protein with a key role in the organization of stereocilia in auditory and vestibular hair cells. Rare variants in the MYO7A (myosin VIIA) gene may cause autosomal dominant (AD) or autosomal recessive (AR) sensorineural hearing loss (SNHL) accompanied by vestibular dysfunction or retinitis pigmentosa (Usher syndrome type 1B). Familial Meniere's disease (MD) is a rare inner ear...
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