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. 2012 Oct 25;7(10):e44054. doi: 10.1371/journal.pone.0044054

Table 1. Characteristics of the study group: all examined patients with hearing loss (HL), and the 34 patients identified as having the m.3243A>G mutation.

Studied patients m.3243A>G mutation carriers
Number 1482 34*
Males 649 (44%) 13 (38%)
Females 833 (56%) 21 (62%)
Mean age at the study (years) 5–62, mean 27.0 6–61, mean 31.0
Mean age of onset of HL (years) 5–40, mean 15; SD = 10.4 8–63, mean 261 SD = 13.7; N = 29***
Profound degree of hearing loss** 3.8% 3.4%
Severe degree of hearing loss** 6.6% 13.8%
Moderate degree of hearing loss** 43.6% 51.8%
Mild degree of hearing loss** 46% 31%
Normal hearing 0 5
Other dysfunction of the inner ear (tinnitus/vertigo) 399/103; (27%/7%) 12/5; (35%/15%)
Progression of hearing loss during observation ND 14
Positive family history of hearing loss 528 (35.6%) 33 (97.0%)2
Development of additional multi-organ 3243A>G pathology ND 17
Number of 35delG GJB2 heterozygotes 80 (5.5%) 1/16 (6.3%)
*

16 probands and 18 relatives.

**

Arithmetic mean of 0.5, 1, 2 and 4 kHz for the better-hearing ear.

***

N = number of patients; 29 of 34 had HL; 5 subjects (aged 6–20) had normal hearing.

1

p<0.000001 vs patients without m.3243A>G (t-test).

2

p<0.00001.

ND = no data.