A clinical evaluation and Cx26 mutation analysis was performed in 92 consec
utive patients with sensorineural hearing loss in order to delineate the sp
ectrum of genetically caused hearing loss. Among patients of Austrian origi
n, 53% were classified with hereditary hearing loss. Cx26 mutations were fo
und in 26% of NSHL patients (40% of familial vs 18% of sporadic cases). The
mutation 35delG accounted for 52.8% of all presumed GJB2 disease alleles.
The second most frequent mutation was L90P (16.7%) having been reported wit
h a prevalence of 0.7-3.5% in other populations. Three novel mutations were
found. The novel mutation, R143Q, was associated with dominant high-freque
ncy hearing loss. Pseudodominant transmission of NSHL was seen in four fami
lies with Cx26 mutations. A mutation 35delG carrier rate of 0.9% was observ
ed among 672 controls from West-Austria. Cx26 mutations were found associat
ed with mild to profound, and with asymmetric hearing impairment.