Table 1 GJB2 sequence variations identified in patients
From: First molecular screening of deafness in the Altai Republic population
Genotype | Affected subjects (n = 76) | Ethnic affiliation |
|---|---|---|
Mutations | ||
35delG / 35delG | 7 (4 independent families) | Russians |
235delC / 235delC | 1 | Altaian |
312del14 / 312del14 | 1 | Russian/Tatar |
35delG / 235delC | 2 (unrelated) | 1 – Russian/Altaian, 1 – Russian |
35delG / 312del14 | 1 | Russian |
R75Qa / 235delC | 1 | Altaian/Russian |
R75Q / 312del14 | 2 (two sibs) | mixed ethnicity |
R75Q/ + | 2 (father and daughter) | Russians |
235delC / W172C | 1 | Altaian |
Total | 18 (23.7%) | |
Non-pathogenic variants | ||
V27I / + | 14 (11 independent families) | 13 Altaians, 1 Kazakh |
(V27I; E114G) b | 7 (unrelated) | 6 Altaians, 1 Altaian/Russian c |
IVS1+27G>C / [V27I; E114G] | 1 | Altaian |
Total | 22 (28.9%) | |