Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: Roles of parental consanguinity and assortative mating

Tekin, Mustafa; Duman, T.; Boğoçlu, G; İncesulu, Armağan; Çomak, Elif; İnci, İlhan; Akar, Nejat

doi:10.1002/humu.9137

Cited by 55 publications

(49 citation statements)

References 15 publications

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“…Mutations of this gene mostly (40%-90%) result from 35delG that leads to a frameshift mutation [15,[17][18][19] . In 2003, Tekin et al [20] reported that the frequency of 35delG mutation varies between 5% and 50% across regions in our country. In our study, 16 (20.8%) patients showed genetic variations related with hearing loss.…”

Section: Discussionmentioning

confidence: 84%

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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Section: Discussionmentioning

confidence: 84%

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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“…In other studies conducted in Turkey, the c.35delG mutation has been found in 5-53% of individuals with hearing impairment (7,10). Although the frequency of (10).…”

Section: Discussionmentioning

confidence: 85%

“…The carrier frequency in Turkey has been reported to range between 1.17% and 1.78% in different studies (17,18). In other studies conducted in Turkey, the c.35delG mutation has been found in 5-53% of individuals with hearing impairment (7,10). Although the frequency of (10).…”

Section: Discussionmentioning

confidence: 97%

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Research of genetic bases of hereditary non-syndromic hearing loss

et al. 2017

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Aim: Hearing loss is the most common sensory disorder that affects approximately one per 1000 live births. With this project, we aimed to identify gene variants that were common causes of hearing loss in Turkey to contribute to the planning of genetic screening programs for hearing loss, as well as to improve genetic counseling to affected families. Material and Methods: Twenty-one families with at least two affected individuals and parental consanguinity who presented with non-syndromic severe-to-profound sensorineural hearing loss were included in this study. We first screened for mutations in GJB2 and mitochondrial DNA 12S RNA genes. Subsequently, we genotyped the TMIE c. [250C>T] mutation in TMIE in one family. A homozygous region with SNP genotypes was detected with the OTOF gene in one family, the TMPRSS3 gene in another family, and also a homozygous region was detected with TMHS, OTOF, and TMPRSS3 genes in another family. Conclusions: Further research will be required to determine the genetic bases of hearing loss in families with non-syndromic hearing loss.

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“…Mutation in 'Gap junction beta 2 protein' (GJB2) also known as 'Connexin 26', is a protein that in human encoded by the GJB2 gene, account for nearly 50 % of recessive nonsyndromic hearing loss (NSHL) in populations all over the world as reported in several studies. Up to now, more than 90 variants of connexin 26 gene have been reported [3]. Connexin 26 is a member of a large family of protein involved in formation of gap junctions which allow direct transfer of small molecules and ions between neighboring cells [4] Connexin 26 gene is expressed in many tissues, but in the cochlea of the inner ear, this gene product plays an important role in the normal hearing by controlling the potassium recycling pathway [4].…”

Section: Introductionmentioning

confidence: 99%

Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic Deafness

Banjara

Mungutwar

Swarnkar

et al. 2015

Indian J Otolaryngol Head Neck Surg

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Hearing loss is most common form of genetic hearing disorder. Non-syndromic sensory neural autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Mutations in GJB2 gene, which encodes the connexin 26 protein, are major cause of NSRD. The aim of this study is directed towards the mutations caused along the connexin 26 gene using blood samples from nonsyndromic deaf children. The study was conducted on 36 congenitally hearing impaired children who visited to our department with complains of hearing loss and reduced speech and whose age was\10 years with no other congenital anomaly. After a thorough history, clinical examination and all audiological and radiological assessment, blood samples are collected and DNA extraction, PCR and sequencing were done for further genetic analysis. Annotated and documented autosomal recessive (pathogenic) mutations were observed in 57 % of NSRD cases. The frequency of pathogenic mutation was commonest for Ins G between nucleotide 30-35 (40 % of cases) followed by Del T at nucleotide 59(20 % of cases).These two common mutations (singly or doubly) were present in 51.4 % of cases. Present study helps to screen the families with hearing impaired children, which will facilitate the development of strategies for diagnosis and treatment of these common genetic disorders.

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Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: Roles of parental consanguinity and assortative mating

Cited by 55 publications

References 15 publications

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

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

Research of genetic bases of hereditary non-syndromic hearing loss

Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic Deafness

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