2016
DOI: 10.1186/s12863-016-0354-9
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The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population

Abstract: BackgroundCongenital hearing loss (CHL) is diagnosed in 1 – 2 newborns in 1000, genetic factors contribute to two thirds of CHL cases in industrialised countries. Mutations of the GJB2 gene located in the DFNB1 locus (13q11-12) are a major cause of CHL worldwide.The aim of this cross-sectional study was to assess the contribution of the DFNB1 locus containing the GJB2 and GJB6 genes in the development of early onset hearing loss in the affected group of participants, to determine the population-specific mutati… Show more

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Cited by 20 publications
(11 citation statements)
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References 47 publications
(39 reference statements)
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“…Congenital hearing loss (HL) is considered as a most prevalent sensorineural disorder associated with both genetic and environmental factors that affect 1–2 in 1000 neonates worldwide. [ 1 ] In Iran, the incidence of HL has been estimated one case in 166 live births. [ 2 ] This high frequency of HL, at least in part, steams from high consanguineous marriage rate (38.6%) in Iranian population.…”
Section: Introductionmentioning
confidence: 99%
“…Congenital hearing loss (HL) is considered as a most prevalent sensorineural disorder associated with both genetic and environmental factors that affect 1–2 in 1000 neonates worldwide. [ 1 ] In Iran, the incidence of HL has been estimated one case in 166 live births. [ 2 ] This high frequency of HL, at least in part, steams from high consanguineous marriage rate (38.6%) in Iranian population.…”
Section: Introductionmentioning
confidence: 99%
“…In two US screenings for carriage of the p.M34T variant, AF was 1.56% and 0.5%, respectively [ 45 , 46 ]. In the Latvian population, the HF of p.M34T was 3.1% [ 47 ], and in the UK the AF was 1.984% [ 48 ]. This variant is a non-inactivating missense gene mutation, which leads to the replacement of the amino acid methionine with threonine, resulting in less pronounced hearing impairment and with a relatively late onset and progression [ 48 ].…”
Section: Discussionmentioning
confidence: 99%
“…Moreover, the analysis of the carrier status of autosomal recessive disorders within the Lithuanian population revealed a substantial difference in the frequency of pathogenic variants between individuals from our country and other Caucasian populations, conferring to the higher probability of the development of the disorder due to a homozygous genetic alteration. 21,22 The possibility of uniparental (maternal) disomy of the first chromosome in the absence of any confirmation of the carrier status of the father's variant was rejected both clinically and genetically. The first chromosome, being the biggest chromosome in the genome, should inevitably carry more than one recessive pathogenic variant.…”
Section: Discussionmentioning
confidence: 99%