Table 1

Overview of hearing impairment associated with specific GJB2 mutations as reported by previous studies. The upper panel represents mutations that are associated with significantly less severe hearing impairment with respect to 35delG homozygotes; the lower panel represents mutations that do not show significant differences with respect to 35delG homozygotes

GenotypeThis studyPrevious studiesReferences
The number of patients is indicated between brackets in cases where more than one patient with the respective phenotype has been reported.
Mi, mild; Mo, moderate; Se, severe; Pr, profound.
35delG/V37I Mi (3)Mi, Mo, Se (2), High frequency 29, 32, 33
35delG/L90P Mi (4), Mo (5)Mi, Mo (15), High frequency (2), Se (2), Pr 19, 29, 34, 32, 35– 37
35delG/delE120 Mo, SeSe (2), Se to Pr 28, 36, 38
35delG/IVS1+1G>A Mo (6), SeMo (3), Se, Pr (3) 34, 25, 32, 35
V37I/V37I Mi, MoMi (2), Mo (4), Se, Se to Pr 28– 31, 32
35delG/W24X Se, PrMo, Se (2), Pr 36, 37
35delG/E47X Se (6), Pr (4)Se, Pr (3) 31, 32, 36
35delG/167delT Mo (3), Se (5), Pr (3)Mo (4), Se (3), Pr (8) 29, 31, 32, 36, 39, 40
35delG/W77R Mo, Se, PrMo, Pr (13) 31, 36, 39
35delG/V95M Se (2)/
35delG/313del14 Se, Pr (4)Se to Pr (3), Pr (6) 6, 34, 32, 38, 39
35delG/R143W Pr (3)Pr 31
35delG/E147K Pr (4)/
35delG/R184P Mo (3), Se, Pr (2)Se to Pr (7), Pr (2) 28, 37