List of mutation combinations in single patients showing moderate hearing impairment. Fisher’s exact probability testing only produced significant results between our group of 35delG homozygotes and single genotypes if the latter category was present in people with PTA0.5–4 kHz<57.5 dB. The genotypes listed below might eventually be labelled as significantly less severe compared to the 35delG/35delG genotype if a second person with the same genotype is found and if both people have PTA0.5–4 kHz⩽83 dB
GJB2 genotype | PTA0.5–4 kHz |
---|---|
*The pathogenic nature of S138N and T123N is not proven. S138N was not described previously, and T123N was reported as a change with an unknown relation to disease.13 These variants were not found in 100 Belgian (S138N) or 400 American (T123N) control chromosomes respectively. The amino acids involved in both variants are not evolutionary conserved between Homo sapiens, Mus musculus, Cavia porcellus, and Ovis aries. | |
35delG/V84L | 63 |
35delG/M93I | 61 |
35delG/S138N* | 70 |
35delG/R184W | 65 |
35delG/N206S | 65 |
W24X/R184P | 58 |
R32C/E47X | 59 |
V84L/R184P | 60 |
T123N/T123N* | 60 |