Table 3

Functional properties of the more frequent GJB2 mutations as described in the literature. The effect on the degree of hearing impairment of these mutations in combination with a 35delG allele is also included

MutationEffect on hearing impairment (current study)Functional propertiesReferences
35delG Mild to profound, with most patients showing severe or profound hearing impairmentNo expression 41
IVS1+1G>A Significantly less severe compared with 35delGNo expression 42
V37I Significantly less severe compared with 35delGComplete loss of channel activity 43
W77R No significant difference compared with 35delGComplete loss of channel activity 43– 46
V84L Possibly associated with less severe hearing impairmentConductance similar to wild-type CX26 43, 47
L90P Significantly less severe compared with 35delGComplete loss of channel activity 41, 43, 48
V95M No significant difference compared with 35delGConductance similar to wild-type CX26 47
delE120 Significantly less severe compared with 35delGComplete loss of channel activity 43
R143W No significant difference compared with 35delGConductance similar to wild-type CX26 47
R184P No significant difference compared with 35delGComplete loss of channel activity 43, 48