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

PloS One
Nina DanilenkoOleg Davydenko

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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Citations

May 24, 2013·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·L VargaM Profant
Sep 6, 2014·Journal of Genetics·Vassos NeocleousLeonidas A Phylactou
Oct 21, 2015·International Journal of Pediatric Otorhinolaryngology·Mariana DóriaCarla Pinto Moura
Nov 13, 2012·International Journal of Pediatric Otorhinolaryngology·Daniz KooshavarMorteza Hashemzadeh-Chaleshtori
May 23, 2015·The Annals of Otology, Rhinology, and Laryngology·Keita TsukadaShin-Ichi Usami
Aug 11, 2018·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Nóra KecskemétiAnikó Gál

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Methods Mentioned

BETA
genotyping
PCR

Software Mentioned

Surfer

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