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

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 E...

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Autores principales:	Nina Danilenko, Elena Merkulava, Marina Siniauskaya, Olga Olejnik, Anastasia Levaya-Smaliak, Alena Kushniarevich, Andrey Shymkevich, Oleg Davydenko
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/c26c1e78c1074cd4b504d0935fdfd6aa
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spelling	oai:doaj.org-article:c26c1e78c1074cd4b504d0935fdfd6aa2021-11-18T07:19:53ZSpectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.1932-620310.1371/journal.pone.0036354https://doaj.org/article/c26c1e78c1074cd4b504d0935fdfd6aa2012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22567152/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203The 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.Nina DanilenkoElena MerkulavaMarina SiniauskayaOlga OlejnikAnastasia Levaya-SmaliakAlena KushniarevichAndrey ShymkevichOleg DavydenkoPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 5, p e36354 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Nina Danilenko Elena Merkulava Marina Siniauskaya Olga Olejnik Anastasia Levaya-Smaliak Alena Kushniarevich Andrey Shymkevich Oleg Davydenko Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.
description	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.
format	article
author	Nina Danilenko Elena Merkulava Marina Siniauskaya Olga Olejnik Anastasia Levaya-Smaliak Alena Kushniarevich Andrey Shymkevich Oleg Davydenko
author_facet	Nina Danilenko Elena Merkulava Marina Siniauskaya Olga Olejnik Anastasia Levaya-Smaliak Alena Kushniarevich Andrey Shymkevich Oleg Davydenko
author_sort	Nina Danilenko
title	Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.
title_short	Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.
title_full	Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.
title_fullStr	Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.
title_full_unstemmed	Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.
title_sort	spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delg gjb2 mutation in belarus.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/c26c1e78c1074cd4b504d0935fdfd6aa
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Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.

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