Table 7.
Summary of the global allele frequencies of the common pathogenic (PLP) variants in connexin genes associated to hearing impairment (HI).
| * Patients (#Chrom/Total #Chrom (Allele Frequency)) | * Controls (#Chrom/Total #Chrom (Allele Frequency)) | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene | Variant | Africa | Asia | Australia | Europe | North America | South America | Africa | Asia | Australia | Europe | North America | South America |
| GJB2 | p.Gly12 ValfsTer2 (c.35delG) | 770/3848 (20.0%) | 5917/71,209 (8.3%) | 50/104 (48.1%) | 15,616/65,019 (24.0%) | 3237/26,976 (12.0%) | 822/8191 (10.0%) | 12/1604 (0.7%) | 35/4684 (0.7%) | 197/21,978 (0.9%) | 6/988 (0.6%) | ||
| p.M34T (c.101T > C) | 2/272 (0.7%) | 89/4902 (1.8%) | 5/104 (4.8%) | 9418/47,909 (19.7%) | 451/25,118 (1.8%) | 44/4500 (1.0%) | 13/1886 (0.7%) | 5/588 (0.9%) | |||||
| p.L79Cfs (c.235delC) | 2/262 (0.8%) | 9666/250,680 (3.9%) | 31/520 (6.0%) | 32/4382 (0.7%) | 80/20,406 (0.4%) | 2/866 (0.2%) | 35/4908 (0.7%) | 1/1886 (0.1%) | 1/588 (0.1%) | ||||
| p.V37I (c.109G > A) | 24/1192 (2.0%) | 2833/81,139 (3.5%) | 8/104 (7.7%) | 95/13,227 (0.7%) | 530/27,288 (1.9%) | 30/4852 (0.6%) | 3/640 (0.5%) | 200/3478 (5.8%) | 11/588 (1.9%) | ||||
|
p.H100Rfs Ter14 (c.299_300delAT) |
0/0 | 1046/85,332 (1.2%) | 7/520 (1.3%) | 7/2936 (0.2%) | 20/19,067 (0.1%) | 0/0 | 3/1264 (0.2%) | ||||||
|
p.W24X (c.71G > A) |
0/0 | 666/22,464 (3.0%) | 3/104 (2.9%) | 249/12,523 (2.0%) | 47/17,055 (0.3%) | 7/2248 (0.3%) | 11/320 (3.4%) | ||||||
|
p.L56Rfs (c.167delT) |
2/50 (4.0%) | 240/17,350 (1.4%) | 1/104 (1.0%) | 93/12,141 (0.8%) | 275/21,540 (1.3%) | 30/3094 (1.0%) | 7/2690 (0.3%) | 1/1886 (0.1%) | |||||
|
p.R143W (c.427C > T) |
255/1298 (19.6%) | 154/62,605 (0.2%) | 1/104 (1.0%) | 17/2977 (0.6%) | 35/21,189 (0.2%) | 35/2132 (1.6%) | 2/290 (0.7%) | ||||||
| GJB6 | Del (GJB6- D13S1830) | 1/204 (0.5%) | 31/3096 (0.1%) | 2/68 (2.9%) | 186/7778 (2.4%) | 36/1498 (2.4%) | 44/4516 (1.0%) | 0/198 | 0/782 | 0/1502 | 0/230 | 0/1508 | |
| Del (GJB6- D13S1854) | 1/782 (0.1%) | 10/2524 (0.4%) | |||||||||||
| GJA1 | p.L11Y (c.31–32 delCTinsTA) | 6/52 (11.5%) | 0/200 | ||||||||||
| p.V24A (c.71T > C) | 2/20 (10.0%) | 0/200 | |||||||||||
| p.L181F (c.543G > C) | 1/506 (0.2%) | 0/240 | |||||||||||
| p.S69P (c.205T > C) | 1/520 (0.2%) | 0/240 | |||||||||||
* The numerators in this column represent the number of mutated alleles, and the denominators the total number of screened alleles. #chrom = number of chromosomes, InterVar, VarSome, and ClinVar are databases to assess the clinical significance of the variants.