Otosclerosis is a hearing disorder that is associated with disordered bone remodeling in the otic capsule. The bone remodeling can result in conductive, mixed, or sensorineural hearing loss as a result of stapes footplate fixation or cochlear involvement ... Otosclerosis is a hearing disorder that is associated with disordered bone remodeling in the otic capsule. The bone remodeling can result in conductive, mixed, or sensorineural hearing loss as a result of stapes footplate fixation or cochlear involvement (summary by Schrauwen et al., 2011).
Schrauwen et al. (2011) studied a large Dutch family segregating autosomal dominant otosclerosis over 3 generations. Immobility of the stapes observed during surgery confirmed the diagnosis in 4 patients; 3 individuals who did not undergo surgery were considered ... Schrauwen et al. (2011) studied a large Dutch family segregating autosomal dominant otosclerosis over 3 generations. Immobility of the stapes observed during surgery confirmed the diagnosis in 4 patients; 3 individuals who did not undergo surgery were considered affected because they met several criteria, including the presence of conductive or mixed hearing impairment, air-bone gap greater than 20 decibels averaged across 0.5 to 2 kHz, absent stapedial reflexes, and normal otoscopy. Four additional family members had hearing impairment abnormal for their age and sex, but did not meet the criteria for otosclerosis.
In a large 3-generation Dutch family with autosomal dominant otosclerosis mapping to chromosome 1q41-q44, Schrauwen et al. (2011) screened the 26.1-Mb region for copy number variants based on the SNP microarray, but did ... - Exclusion Studies In a large 3-generation Dutch family with autosomal dominant otosclerosis mapping to chromosome 1q41-q44, Schrauwen et al. (2011) screened the 26.1-Mb region for copy number variants based on the SNP microarray, but did not detect any aberration. In addition, 2 candidate genes in the region, TGFB2 (190220) and AGT (106150), were sequenced but no pathogenic variants were identified.