Table 1. Mutant alleles detected in the 188 deaf families and 47 normal-hearing controls.
Nucleotide change | Amino acid change | Allele no. in patients (%)# | Allele no. in controls (%)† |
---|---|---|---|
GJB2 | |||
c.-23+1G>A | NA | 12 (3.2) | 0 (0) |
c.235delC | p.Leu79Cysfs*3 | 8 (2.1) | 1 (1.1) |
c.35delG | p.Gly12Valfs*2 | 6 (1.6) | 0 (0) |
c.109G>A | p.Val37Ile | 4 (1.0) | 0 (0) |
c.299_300delAT | p.His100Argfs*14 | 4 (1.0) | 0 (0) |
c.35dupG | p.Val13Cysfs*35 | 2 (0.5) | 0 (0) |
c.560_605dup | p.Cys202* | 2 (0.5) | 0 (0) |
c.269T>C | p.Leu90Pro | 1 (0.3) | 0 (0) |
c.508_511dupAACG | p.Ala171Glufs*40 | 1 (0.3) | 0 (0) |
Total | 40 (10.6)K | 1 (1.1)K | |
SLC26A4 | |||
c.919-2A>G | NA | 7 (2.1) | 0 (0) |
c.281C>T | p.Thr94Ile | 1 (0.3) | 0 (0) |
c.2027T>A | p.Leu676Gln | 1 (0.3) | 0 (0) |
Total | 9 (2.4) | 0 (0) | |
MT-RNR1 | |||
m.1555A>G | NA | 2 (1.1) | 0 (0) |
# 376 GJB2, 376 SLC26A4, and 188 MT-RNR1 alleles.
† 94 GJB2, 94 SLC26A4, and 47 MT-RNR1 alleles.
K p < 0.01 by Fisher’s exact test.
NA, Not available.