STRC hearing loss (DFNB16)
Gene. STRC Gene biallelic LoF. Clinical. Mild-to-moderate sensorineural; often bilateral, symmetric; congenital or early-onset; flat or slightly downsloping audiogram. Prevalence. 1–2% of all nonsyndromic HL; up to 15% of mild-to-moderate cases in diagnostic cohorts. Mechanism. Stereocilin loss → failed horizontal top connectors + absent tectorial attachment → defective tip-link coupling + OHC bundle disorganization.
current treatment
- Hearing aids (first line, good outcome for mild-moderate)
- Cochlear implants (reserved — mild-mod is too mild for CI benefit/risk)
- No approved gene/protein therapy. 2021 Holt dual-AAV, 2026 Iranfar dual-AAV = preclinical.
diagnostic pitfall
STRCP1 97% identity → ~15% false-positive rate on standard NGS. Requires long-read or paralog-aware analysis.
Connections
[about]STRC Gene[see-also]DFNB16 Hearing Loss[part-of]index[source]2024-genereviews-strc-dfnb16[source]STRC-PROBLEM