Gene PCDH15
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Also known as
protocadherin related 15, USH1F, DFNB23Overview
PCDH15 (Protocadherin Related 15) encodes a calcium-dependent cell adhesion protein essential for the development and maintenance of hair cells in the inner ear. PCDH15 forms tip links between stereocilia, which are critical for mechanotransduction - the process that converts sound vibrations into electrical signals for hearing.Mutations in PCDH15 cause Usher syndrome type 1F, characterized by profound congenital deafness, vestibular dysfunction, and progressive retinitis pigmentosa leading to blindness. Less severe mutations can cause non-syndromic hearing loss (DFNB23) without the visual component. The gene is one of the most common causes of deaf-blindness.
Understanding your PCDH15 genetic status provides insights into hereditary hearing and vision loss. This information is particularly important for families with Usher syndrome, enabling early intervention for hearing impairment and preparation for potential vision loss, as well as genetic counseling for family planning.