Table 1 Clinical features of the m.3243 A > G carriers
From: Clinical characteristics and hearing impairment in carriers of the m.3243 A > G variant
Number of subjects | 37 |
Sex (n) | |
Female | 17 (46%) |
male | 20 (54%) |
Heteroplasmy:% (range) | <1–72 |
Age adjusted Heteroplasmy (range) | 5–138 |
Height:cm 20 y.o. and over (range:md) | |
Female | 140–163.4 (150) |
male | 154.2–168.3 (163) |
BMI:kg/m2 (range:md) | 11.7–26 (18.3) |
Complications (n) | |
HL | 32 (86%) |
Diabetes | 26 (70%) |
heart disease | 9 (24%) |
kidney disease | 6 (16%) |
Developmental delays | 1 (2.7%) |
MELAS | 6 (16%) |
muscle weakness | 6 (16%) |
eye disease | 2 (5.4%) |
CPEO | 1 (2.7%) |
Family history of HL(-) (n) | 3 |
Age at genetic test:y.o. (range:md) | 5–78 (43) |
Age at onset of HL(n = 32) | |
0–5 y.o. | 0 |
6–10 y.o. | 0 |
11–20 y.o. | 11 (34%) |
>20 y.o. | 21 (66%) |
Age of using hearing aid:y.o. (range:md) | 13–67 (40) |
Severity of HL※ (n) | |
mild (21–40 dB) | 11 (30%) |
moderate (41–70 dB) | 14 (38%) |
severe (71–90 dB) | 6 (16%) |
profound (91dB-) | 1 (2.7%) |
normal (<20 dB) | 5 (13%) |
Audiometric configuration (n) | |
Flat | 16 (50%) |
gently sloping | 11 (35%) |
steepy sloping | 0 |
profound | 1 (3%) |
reverse U-shaped | 4 (12%) |
