DFNB16 Hearing Loss

Autosomal recessive non-syndromic hearing loss caused by mutations in the STRC (Stereocilin) gene. One of the most common forms of moderate-to-severe SSNHL, with estimated prevalence of ~1:5000.

Misha’s diagnosis: Moderate bilateral SNHL with STRC pathogenic variants (DFNB16).

Key Facts

• STRC encodes stereocilin, a protein critical for outer hair cell (OHC) stereocilia attachment
• Loss leads to progressive OHC dysfunction and hearing degradation
• No hair cell death (unlike many other SNHL causes) — repair/restoration potentially viable
• Gene therapy window: OHCs likely preserved in early childhood

Connections

• [applies] Misha
• [see-also] STRC Gene Therapy Landscape 2026
• [source] Iranfar 2026 — Dual AAV STRC — dual AAV restoration of DFNB16
• [source] Verpy_2008_Stereocilin_Nature — original stereocilin characterization
• [part-of] STRC Gene Therapy Landscape 2026
• [part-of] MOC - Psychology & ADHD