Locus (OMIM)Gene (OMIM)InheritanceKey Locus References (PubMed)Key Gene References (PubMed)
Evidence (ClinGen)
OTSC1unknownAutosomal DominantTomek et al., 1998n/an/a
OTSC2unknownAutosomal DominantVan Den Bogaert et al., 2001n/an/a
OTSC3unknownAutosomal DominantChen et al., 2002n/an/a
OTSC4unknownAutosomal DominantBrownstein et al., 2006n/an/a
OTSC5unknownAutosomal DominantVan Den Bogaert et al., 2004n/an/a
OTSC7unknownAutosomal DominantThys et al., 2007n/an/a
OTSC8unknownAutosomal DominantBel Hadj Ali et al., 2008n/an/a
OTSC10unknownAutosomal DominantSchrauwen et al., 2011n/an/a
OTSC11FOXL1Autosomal DominantAbdelfatah et al., 2022Abdelfatah et al., 2022not reviewed
unassignedSERPINF1 (see note 1)Autosomal DominantZiff et al., 2016; Valgaeren et al., 2019Ziff et al., 2016; Valgaeren et al., 2019not reviewed
unassignedMEPEAutosomal DominantSchrauwen et al., 2019Schrauwen et al., 2019not reviewed
unassignedSMARCA4Autosomal DominantDrabkin et al., 2023Drabkin et al., 2023not reviewed

n/a = not applicable

Note 1: Valgaeren et al., 2019 disputes the role of SERPINF1 in the pathogenesis of otosclerosis.

Clinical otosclerosis has a reported prevalence of 0.2 - 1% among white adults, making it the single most common cause of hearing impairment in this population. Mean age-of-onset is in the third decade, and 90% of affected persons are under 50 years of age at the time of diagnosis. It is characterized by isolated sclerosis of endochondral bone of the inner ear. Conductive hearing loss develops when otosclerotic foci invade the stapedio-vestibular joint (oval window) and interfere with free motion of the stapes. Sensorineural hearing loss may also be present. Although the sensorineural loss cannot be corrected, stapes microsurgery has proven to be a successful means to restore normal ossicular conduction and can improve hearing thresholds. Families with autosomal dominantly inherited otosclerosis have been described, but in most patients the etiology of the disease is unknown.