Amino Acid | Nucleotide | Number of Alleles | Frequency (%) |
---|---|---|---|
E47X | 139G>T | 1 | 1.52 |
R32C | 94C>T | 1 | 1.52 |
G4D | 11G>A | 1 | 1.52 |
W77X | 231G>A | 1 | 1.52 |
59stop | 176-191del16 | 1 | 1.52 |
Q80R | 239A>G | 1 | 1.52 |
S139N | 416G>A | 2 | 3.03 |
11stop | 30-35delG | 3 | 4.55 |
299-300delAT | 299-300delAT | 10 | 15.15 |
79stop | 235delC | 45 | 68.18 |
Mutation Status | Pre-lingual Deafness (≤3 years) | Post-lingual Deafness (>3 and <18 years) | χ2 Test | |
---|---|---|---|---|
44 (23.66%) | 5 (9.80%) | 4.683 | 0.031 | |
mtDNA A1555G/C1494T: | 18 (9.68%) | 7 (13.73%) | 0.695 | 0.404 |
Mutation Status | Total | Age at Onset | χ2 Test | |||
---|---|---|---|---|---|---|
≤1 year | >1 and ≤3 years | >3 years | ||||
49 | 32 (65.31%) | 11 (22.45%) | 6 (12.24%) | 13.383 | 0.001 | |
mtDNA mutations | 30 | 8 (26.67%) | 9 (30.00%) | 13 (43.33%) |
Mutation Status | Infants ( | Preschool ( | School Age ( | χ2 Test | |
---|---|---|---|---|---|
44 (23.66%) | 2 (9.52%) | 3 (10.00%) | 4.685 | 0.096 | |
mtDNA A1555G/C1494T: | 18 (9.68%) | 2 (9.52%) | 5 (16.67%) | 1.363 | 0.502 Fisher’s exact test |
Amino Acid | Nucleotide | Number of Affected Alleles | Number of Alleles | Category | |
---|---|---|---|---|---|
Homozygous | Heterozygous | ||||
V27I | 79G>A | 27 | 90 | 144 | polymorphism |
E114G | 341A>G | 11 | 69 | 91 | polymorphism |
V37I | 109G>A | 1 | 11 | 13 | polymorphism |
I203K | 608T>C | 1 | 8 | 10 | polymorphism |
T123N | 368C>A | 0 | 3 | 3 | polymorphism |
G4D | 11G>A | 0 | 1 | 1 | missense |
11stop | 30-35delG | 1 | 1 | 3 | deletion/frameshift |
R32C | 94C>T | 0 | 1 | 1 | missense |
E47X | 139G>T | 0 | 1 | 1 | missense |
59stop | 176-191del16 | 0 | 1 | 1 | deletion/frameshift |
W77X | 231G>A | 0 | 1 | 1 | missense |
79stop | 235delC | 15 | 15 | 45 | deletion/frameshift |
Q80R | 239A>G | 0 | 1 | 1 | missense |
299-300delAT | 299-300delAT | 3 | 4 | 10 | deletion/frameshift |
S139N | 416G>A | 1 | 0 | 2 | missense |
T18I | 53C>T | 0 | 1 | 1 | novel sequence variation |
D50N | 148G>A | 0 | 1 | 1 | novel sequence variation |
Y38C | 203A>G | 0 | 1 | 1 | novel sequence variation |
T86R | 257C>G | 0 | 1 | 1 | novel sequence variation |
G160S | 478G>A | 0 | 1 | 1 | novel sequence variation |
Mutation Status | Total | Degree of Hearing Loss | χ2 Test | ||||
---|---|---|---|---|---|---|---|
Mild | Moderate | Severe | Profound | ||||
49 | 3 (6.12%) | 5 (10.20%) | 9 (18.37%) | 32 (65.31%) | <0.001 Fisher’s exact test | ||
mtDNA mutations | 30 | 1 (3.33%) | 15 (50.00%) | 0 (0.00%) | 14 (46.67%) |
Mutation Status | Infants | Preschool ( | School Age ( | χ2 Test | |
---|---|---|---|---|---|
16 (22.22%) | 14 (25.93%) | 15 (21.43%) | 0.384 | 0.826 | |
mtDNA A1555G/C1494T: | 1 (1.39%) | 2 (3.70%) | 6 (8.57%) | 4.314 | 0.143 Fisher’s exact test |
Grading Standard | Degree of Hearing Loss | ||||
---|---|---|---|---|---|
Mild | Moderate | Moderate to Severe | Severe | Profound | |
Guidelines [ | 1 | 11 | ‒ | 3 | 7 |
ISO-1964 Compared with 4.0-8.0 kHz Fisher’s exact test. | 5 | 6 | 5 | 1 | 5 |
ISO-1997 | 1 | 8 | ‒ | 5 | 8 |
0.25-8.0 kHz | 0 | 6 | 7 | 2 | 7 |
1.0-4.0 kHz | 0 | 4 | 5 | 7 | 6 |
4.0-8.0 kHz | 0 | 0 | 0 | 7 | 15 |