Evidence for single origins of 35delG and delE120 mutations in the <i>GJB2</i> gene in Anatolia

Tekin, Mustafa; Boğoçlu, G; Arican, S. T.; Orman, MN; Taştan, Hakkı; Elsayed, Solaf M.; Akar, Nejat

doi:10.1111/j.1399-0004.2004.00334.x

Cited by 46 publications

(44 citation statements)

References 22 publications

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“…When the 35delG mutation of the GJB2 gene is mutant in both alleles, it causes SNHL. In NSSNHL patients with familial autosomal recessive inheritance, the rate of 35delG homozygosity was reported as 17.5%-21.7%, and the rate of heterozygous mutation was reported as 1.9%-4.3% (18,25,26). Regarding the familial history of patients in the study group of our study, congenital NSSNHL was determined at least in one person in the families of 18.3% of patients.…”

Section: Discussionmentioning

confidence: 59%

“…Nearly 70% of the pathological GJB2 mutations seen in Europe, North America, and Mediterranean societies comprise 35delG (16). It has been reported that the incidence frequency of the 35delG mutant allele is in the range of 5% to 53% in different cities of our country (17,18). In studies conducted, GJB2 mutations, other than 35delG, were found at high frequency for different ethnic groups.…”

Section: Discussionmentioning

confidence: 83%

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Analysis of Gjb2 (Connexin 26) Mutation in Patients with Congenital Non-Syndromic Sensorineural Hearing Loss

Kaskalan¹,

Önalan²,

Kaygusuz³

et al. 2014

Turk Arch Otolaryngol

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Objective: This study was performed to investigate the GJB2 (connexin 26) gene mutations that are the most frequent cause of sensorineural deafness in patients with congenital non-syndromic sensorineural hearing loss in our region. Methods:Sixty patients [35 males (58.3%) and 25 females (41.7%)] between the age of 2-43 years (12.11±9.03) diagnosed with congenital non-syndromic sensorineural hearing loss were included in the study. The control group consisted of 60 individuals with similar demographic features having no hearing problems. 35delG, 167delT, delE120 and 235delC of GJB2 gene mutations and GJB6 gene mutations, and the presence of new mutations were also investigated by analysis of DNA sequences in all individuals.Results: Mutations were identified in 6 (10%) of the 60 patients in the study group. Five of these (8.3% of total) had 35delG and one (1.7%) had a delE120. No mutation was detected in control group individuals. In the study group, a statistically significant correlation was determined between the presence of familial sensorineural hearing loss history and 35delG or delE120 mutation (p=0.011, p=0.034).Conclusion: This is the first study which investigated the GJB2 gene mutation in our region, and our results indicate that 35delG mutation was the most frequent. We believe that our results are noteworthy for the identification of heterozygous or homozygous individuals and the genetic counseling of patients with congenital non-syndromic sensorineural hearing loss and their family.

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Section: Discussionmentioning

confidence: 59%

Section: Discussionmentioning

confidence: 83%

Analysis of Gjb2 (Connexin 26) Mutation in Patients with Congenital Non-Syndromic Sensorineural Hearing Loss

Kaskalan¹,

Önalan²,

Kaygusuz³

et al. 2014

Turk Arch Otolaryngol

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“…The second fact is that c.235delC, the GJB2 mutation that most frequently causes autosomal recessive hearing impairment (MIM * 121011) in Asia has a frequency of 3.4-13.9% [12][13][14], far below the 35% of autosomal recessive hearing impairment caused by c35deG in southern Europe [6]; even when we are talking about two ancient mutations that could be considered contemporaneous [60][61][62]64] and its carrier frequencies are remarkably similar [17]. This makes us suspect that perhaps p.Val27Ile has some protecting effect against the emergence of GJB2 pathogenic mutations in cis configuration with this polymorphism; which is supported by the very low frequency of this kind of haplotype (p.Val27Ile; pathogenic mutation) [14,29,59]. The third fact is that p.Val27Ile seems to be capable of compensating for the decreased activity of p.Glu114Gly in heterotypic hemichannels of GJB2 (compound by p.Val27Ile and p.Glu114Gly), as have been demonstrated by in vitro tests [67].…”

Section: Discussionmentioning

confidence: 95%

“…This low frequency could be due to the many ethnically distinct populations that immigrated into Turkey from the Paleolithic Era, mainly during the past 10,000 years [27,58,59].…”

Section: Discussionmentioning

confidence: 99%

Evidence for Central Asian Origin of the p.Val27Ile Variant in the GJB2 Gene

Sánchez

Alfaro-Rodríguez

Poblano

2014

International Journal of Medical Genetics

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The mutations in the GJB2 gene are the most common cause of nonsyndromic hearing impairment and they are associated with the population's ethnic background. The p.Val27Ile is frequent in both Asia and America. In this retrospective study, we report the findings from the GJB2 screening and the audiological exams conducted on 125 Mexican mestizo patients with non-syndromic hearing impairment; they were treated at the Instituto Nacional de Rehabilitacion in Mexico City. The most frequent audiometric findings were bilateral, symmetrical, and profound hearing impairment. The allele frequencies in the GJB2 screening were p.Val27Ile 15%, other mutations 5%, and wild type 80%. We found no correlation between GJB2 genotype and auditory phenotype. The high allele frequency of p.Val27Ile was a very interesting finding. Our research suggests that p.Val27Ile arose in an ancient common ancestor who lived in Altai Republic and then the polymorphism was brought to America by its first inhabitants, the Amerindians. These results enhance our understanding of the peopling of the America, which remains unresolved.

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“…It was first described in 1999, and in a study, its frequency was reported to be approximately 1% [26] . In two studies from our country, it was reported that delE120 mutation is the second most common mutation following 35delG, and that its allele frequency was approximately 2% [27,28] . In our study group, frequency of this mutation was 1.4%.…”

Section: Discussionmentioning

confidence: 99%

The Prevalence of Gap Junction Protein Beta 2 (GJB2) Mutations in Non Syndromic Sensorineural Hearing Loss in Çukurova Region

Bozdoğan

Kuran²,

Yüreğir³

et al. 2015

Int Adv Otol

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OBJECTIVE:To date, studies in all populations showed that mutations in the gene of Gap junction protein beta 2 (GJB2) play an important role in non-syndromic autosomal recessive congenital hearing loss. The aim of this study was to evaluate GJB2 gene of patients with hearing loss in our region using deoxyribonucleic acid (DNA) sequencing method and to demonstrate region-specific mutation and polymorphism distribution. MATERIALS and METHODS:Patients who had bilateral severe sensorineural non-syndromic hearing loss identified by audiologic evaluation were included. Peripheral blood samples were collected and the GJB2 gene exon1 and exon 2 regions were amplified by polymerase chain reaction (PCR). Obtained PCR products were sequenced by the DNA sequence analysis method (SeqFinder Sequencing System; ABI 3130; Foster City, CA, USA) and analyzed using the SeqScape software. RESULTS:Of the 77 patients, 16 had homozygous or heterozygous mutation. CONCLUSION:The mutation of 35delG, which is known as the most frequent mutation of GJB2 gene, was also the most frequently seen mutation at a ratio of 5.5% in patients with hearing loss in our region; this was followed by the V27I mutation. As this is the first study conducted by sequence analysis in our region, it was worth to be presented in terms of showing the distribution of mutation.

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Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia

Cited by 46 publications

References 22 publications

Analysis of Gjb2 (Connexin 26) Mutation in Patients with Congenital Non-Syndromic Sensorineural Hearing Loss

Analysis of Gjb2 (Connexin 26) Mutation in Patients with Congenital Non-Syndromic Sensorineural Hearing Loss

Evidence for Central Asian Origin of the p.Val27Ile Variant in the GJB2 Gene

The Prevalence of Gap Junction Protein Beta 2 (GJB2) Mutations in Non Syndromic Sensorineural Hearing Loss in Çukurova Region

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