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. 2012;7(5):e36354.
doi: 10.1371/journal.pone.0036354. Epub 2012 May 2.

Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus

Nina Danilenko  1 , Elena Merkulava, Marina Siniauskaya, Olga Olejnik, Anastasia Levaya-Smaliak, Alena Kushniarevich, Andrey Shymkevich, Oleg Davydenko
Affiliations

Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus

Nina Danilenko et al. PLoS One. 2012.

Abstract

The genetic nature of sensorineural hearing loss (SNHL) has so far been studied for many ethnic groups in various parts of the world. The single-nucleotide guanine deletion (35delG) of the GJB2 gene coding for connexin 26 was shown to be the main genetic cause of autosomal recessive deafness among Europeans. Here we present the results of the first study of GJB2 and three mitochondrial mutations among two groups of Belarusian inhabitants: native people with normal hearing (757 persons) and 391 young patients with non-syndromic SNHL. We have found an extremely high carrier frequency of 35delG GJB2 mutation in Belarus -5.7%. This point deletion has also been detected in 53% of the patients with SNHL. The 312del14 GJB2 was the second most common mutation in the Belarus patient cohort. Mitochondrial A1555G mt-RNR1 substitution was found in two SNHL patients (0.55%) but none were found in the population cohort. No individuals carried the A7445G mutation of mitochondrial mt-TS1. G7444A as well as T961G substitutions were detected in mitochondrial mt-RNR1 at a rate of about 1% both in the patient and population cohorts. A possible reason for Belarusians having the highest mutation carrier frequency in Europe 35delG is discussed.

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Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Map of Belarus.
Figures indicate the regions where the population samples have been collected; the Polessie region is shown dashed.
Figure 2
Figure 2. Geographic distribution of 35delG carrier rate.
The spatial frequency map was obtained by plotting the incidence of the 35delG allele in 4346 individuals representing 20 populations including 6 sub-populations from Belarus together with others taken from the literature , . The frequency data were converted to the isofrequency map using Surfer software (version 7, Golden Software Inc., Golden, CO, USA). The right panel shows how the color scale corresponds to 35delG allele frequency (%).
Figure 3
Figure 3. Percentages of DD and NN 35delG genotypes among Belarus SNHL patients with different degrees of hearing loss.
See this image and copyright information in PMC

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