OTOF

Otoferlin (OTOF) Gene: A Guardian of Hearing

Description

The Otoferlin (OTOF) gene plays a pivotal role in hearing, encoding a protein essential for synaptic transmission in the inner ear. This protein, Otoferlin, is localized to the hair cell ribbon synapse, where it synchronizes the release of neurotransmitters in response to sound stimulation.

Associated Diseases

Mutations in the OTOF gene can lead to various forms of hearing impairment, including:

• Deafness at birth (congenital deafness): This is the most severe form of OTOF-related hearing loss, resulting in complete or profound deafness from birth.
• Progressive hearing loss: This form of hearing loss typically starts in childhood and progresses gradually over time, leading to significant hearing impairment in adulthood.
• Auditory neuropathy spectrum disorder (ANSD): This is a condition that affects the auditory nerve and can result in difficulties understanding speech, even with hearing aids.

Did you Know ?

Approximately 1 in 10,000 individuals worldwide have OTOF-related hearing loss, making it one of the most common genetic causes of deafness.