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.
Highlights
The genetic mechanisms of hearing loss have been extensively analyzed during the last two decades
More than 50% of cases of autosomal recessive non-syndromic hearing loss in many world populations are attributed to mutations in GJB2 gene encoding connexin 26 (OMIM: 121011) [5]
Carrier rate of 35delG GJB2 mutation in Belarus The number of persons genotyped in six regions of Belarus (Figure 1) for estimation of the deafness major mutation carrier rate is presented in table 1
Summary
The genetic mechanisms of hearing loss have been extensively analyzed during the last two decades. We provide here the genetic evidence that the carrier frequency of the 35delG deafness mutation in the Belarus population is the highest compared to other countries. Our study reveals that the second most common GJB2 mutation in the Belarus patient cohort with SNHL is the 312del14 deletion.
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