Skip to main content

Table 3 Genotype distribution of pathogenic GJB2 gene mutations in the GJB2-positive subgroup of affected participants

From: The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population

GJB2 genotype Profound Severe Moderate Mild Total count %
c.[35delG];[35delG] 30 5 2 - 37 44.0
c.[35delG];[313_326del14] 20 4 4 0 28 33.3
c.[313_326del14];[313_326del14] 5 1 3 0 9 10.7
c.[35delG];[269 T > C] 1 - - 2 3 3.6
c.[35delG];[101 T > C] - - - 2 2 2.4
c.[35delG];[167delT] - - 1 - 1 1.2
c.[35delG];[379C > T] 1 - - - 1 1.2
c.[35delG];[109G > A] - - 1 - 1 1.2
c.[269 T > C];[313_326del14] - - - 1 1 1.2
c.[c.101 T > C];[313_326del14] - - - 1 1 1.2
Total GJB2 (+) 57 10 11 6 84 100.0