Clinical otosclerosis

Locus (OMIM)

Location

Gene (OMIM)

Important reference

OTSC1

15q26.1-qter

unknown

Tomek et al., 1998

OTSC2

7q34-q36

unknown

Van den Bogaert et al., 2001

OTSC3

6p21.3-22.3

unknown

Chen et al., 2002

OTSC4

16q21-23.2

unknown

Brownstein et al., 2006

OTSC5

3q22-q24

unknown

Van den Bogaert et al., 2004

OTSC6 

reserved  

 

 

OTSC7

6q13-16.1

unknown

Thys et al., 2007

OTSC8

9p13.1-9q21.11

unknown Bel Hadj Ali et al., 2008
OTSC9

reserved

   
OTSC10

1q41-44

unknown

Schrauwen et al., 2011

 

 

 

 

 


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.