The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population

BMC Genetics
Violeta MikstieneAlgirdas Utkus

Abstract

Congenital 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 mutational profile and DFNB1-related HL burden in Lithuanian population. Clinical data were obtained from a collection of 158 affected participants (146 unrelated probands) with early onset non-syndromic HL. GJB2 and GJB6 gene sequencing and GJB6 gene deletion testing were performed. The data of GJB2 and GJB6 gene sequencing in 98 participants in group of self-reported healthy Lithuanian inhabitants were analysed. Statistic summary, homogeneity tests, and logistic regression analysis were used for the assessment of genotype-phenotype correlation. Our findings show 57.5% of affected participants with two pathogenic GJB2 gene mutations identified. The most prevalent GJB2 mutations were c.35delG, p. (Gly12Valfs*2) (rs80338939) and c.313_326...Continue Reading

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Citations

Sep 4, 2018·Annals of Human Genetics·Fatemeh Azadegan-DehkordiMorteza Hashemzadeh-Chaleshtori
Dec 14, 2019·American Journal of Medical Genetics. Part a·Egle PreiksaitieneVaidutis Kučinskas
Sep 26, 2020·Journal of Personalized Medicine·Anna V KiselevaOxana M Drapkina
Nov 18, 2019·Journal of Clinical Lipidology·Zaneta PetrulionieneAlgirdas Utkus
Mar 5, 2018·International Journal of Pediatric Otorhinolaryngology·Mahbobeh KoohiyanMohammad Amin Tabatabaiefar
Jun 15, 2019·International Journal of Pediatric Otorhinolaryngology·Sonia TalbiFatima Ammar Khodja
Jan 20, 2022·Human Genetics·Ignacio Del CastilloMiguel A Moreno-Pelayo

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Methods Mentioned

BETA
genotyping
PCR
electrophoresis
nucleic acid purification
exome sequencing

Software Mentioned

Polyphen
[UNK] Genomic Analysis
Polyphen2
Primer Blast
DEAFGEN
R
LITGEN
Integrative Genomics Viewer ( IGV )
Sequence Analysis
Power

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