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    GJB2 gap junction protein beta 2 [ Homo sapiens (human) ]

    Gene ID: 2706, updated on 22-Apr-2017

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    We attempted to identify the genetic epidemiology of hereditary hearing loss among the Chinese Han population using next-generation sequencing The entire length of the genes GJB2, SLC26A4, and GJB3 were sequenced from 116 individuals suffering from hearing loss. In our study, SLC26A4 and GJB2 were the most frequently affected genes among the Chinese Han population with hearing loss.

    Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss.
    Chen S, Dong C, Wang Q, Zhong Z, Qi Y, Ke X, Liu Y.

    Deafness associated with G109V could result from decreased GJCs activity, whereas deafness associated to L10P may have a more complex mechanism that involves changes in HC permeability.

    Gap-junctional channel and hemichannel activity of two recently identified connexin 26 mutants associated with deafness.
    Dalamon V, Fiori MC, Figueroa VA, Oliva CA, Del Rio R, Gonzalez W, Canan J, Elgoyhen AB, Altenberg GA, Retamal MA.

    Somatic mutation in GJB2 gene cause nevoid spiny hyperkeratosis.

    Somatic Mosaicism for a "Lethal" GJB2 Mutation Results in a Patterned Form of Spiny Hyperkeratosis without Eccrine Involvement.
    Eskin-Schwartz M, Metzger Y, Peled A, Weissglas-Volkov D, Malchin N, Gat A, Vodo D, Mevorah B, Shomron N, Sprecher E, Sarig O.

    There was a high prevalence of IVS1+1G>A mutation in this sample of deaf families in Syria.

    First report of prevalence c.IVS1+1G>A and del (GJB6-13S1854) mutations in Syrian families with non-syndromic sensorineural hearing loss.
    Al-Achkar W, Al-Halabi B, Ali B, Moassass F.

    homozygous GJB2 c.109G[A mutation may be a cause of sudden death involving both ears.

    GJB2 and mitochondrial 12S rRNA susceptibility mutations in sudden deafness.
    Chen K, Sun L, Zong L, Wu X, Zhan Y, Dong C, Cao H, Tang H, Jiang H.

    study suggests that the GJB2 235delC polymorphism, but not the 30-35delG variant, contributes to congenital deafness susceptibility in the Chinese population examined

    Effect of GJB2 235delC and 30-35delG genetic polymorphisms on risk of congenital deafness in a Chinese population.
    Xiong Y, Zhong M, Chen J, Yan YL, Lin XF, Li X.

    We report here a non consanguineous assortatively mating hearing impaired family with one of the hearing impaired partners, their hearing impaired sibling and hearing impaired offspring showing compound heterozygosity in the GJB2 gene, involving a dominant mutation p.R184Q and two recessive mutations p.Q124X and c.IVS 1+1G>A in a unique triallelic combination.

    Rare compound heterozygosity involving dominant and recessive mutations of GJB2 gene in an assortative mating hearing impaired Indian family.
    Pavithra A, Chandru J, Jeffrey JM, Karthikeyen NP, Srisailapathy CR.

    There are more than 39 deafness genes reported to cause non-syndromic hereditary hearing loss (HHL) in Iran, of which the most prevalent causative genes include GJB2, SLC26A4, MYO15A, and MYO7A. In addition, we highlight some of the more common genetic causes of syndromic HHL in Iran. [review]

    Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.
    Beheshtian M, Babanejad M, Azaiez H, Bazazzadegan N, Kolbe D, Sloan-Heggen C, Arzhangi S, Booth K, Mohseni M, Frees K, Azizi MH, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Najmabadi H.

    Two GJB2 mutations, c.del35G with an allele frequency of 4.7 % and R32C (3.7 %) were detected in Mauritanian children with non-syndromic hearing loss.

    Etiology and associated GJB2 mutations in Mauritanian children with non-syndromic hearing loss.
    Moctar EC, Riahi Z, El Hachmi H, Veten F, Meiloud G, Bonnet C, Abdelhak S, Errami M, Houmeida A.

    Our results showed that the GJB2 gene is a major contributor to non syndromic hearing loss in Morocco

    Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.
    Bakhchane A, Bousfiha A, Charoute H, Salime S, Detsouli M, Snoussi K, Nadifi S, Kabine M, Rouba H, Dehbi H, Roky R, Charif M, Barakat A.

    Compound heterozygous variants c.94C > T (p.R32C) and c.235delC (p.L79Cfs*3) in the GJB2 gene were identified in the two patients of an autosomal recessive non-syndromic hearing loss family, and the heterozygous GJB2 c.94C > T and c.235delC variants were identified in his unaffected father and mother, respectively.

    Compound heterozygous GJB2 mutations associated to a consanguineous Han family with autosomal recessive non-syndromic hearing loss.
    Xia H, Xu H, Deng X, Yuan L, Xiong W, Yang Z, Deng H.

    mutations detected in 35 of 156 deaf patients

    GJB2, SLC26A4, and mitochondrial DNA12S rRNA hot-spots in 156 subjects with non-syndromic hearing loss in Tengzhou, China.
    Ma Y, Xiao Y, Bai X, Zhang F, Zhang D, Xu X, Xu L, Wang H.

    GJB2 gene mutations are highly prevalent in pre-lingual hearing loss patients from China. 83.64% of the 330 patients carried variations in the GJB2 gene. Seventeen different genotypes were identified. A total of 31.2% of the patients carried 2 confirmed pathogenic mutations. The frequency of c.235delC was higher than that reported previously in the Jiangsu province.

    Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province.
    Shi L, Chen J, Li J, Wei X, Gao X.

    GJB2 gene mutation is the most common mutation for congenital hearing loss in Chinese newborns.

    GJB2 as Well as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness.
    Fang Y, Gu M, Wang C, Suo F, Wang G, Xia Y.

    48.67% of the patients were identified with hereditary hearing loss caused by mutations in GJB2, SLC26A4, and mtDNA12SrRNA.

    Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.
    Zhang F, Xiao Y, Xu L, Zhang X, Zhang G, Li J, Lv H, Bai X, Wang H., Free PMC Article

    Low frequency of GJB2 mutations in this population is indicative that other genes may be involved in nonsyndromic hearing loss in Ilam populations.

    GJB2 mutations in deaf population of Ilam (Western Iran): a different pattern of mutation distribution.
    Mahdieh N, Mahmoudi H, Ahmadzadeh S, Bakhtiyari S.

    Data identified two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment.

    Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment.
    Wang HY, Zhao YL, Liu Q, Yuan H, Gao Y, Lan L, Yu L, Wang DY, Guan J, Wang QJ., Free PMC Article

    consequences of GJB2 Gene Missense Mutations

    Bioinformatic Analysis of GJB2 Gene Missense Mutations.
    Yilmaz A.

    A hearing impaired patient's age at the time of first presentation correlates strongly with the probability of having a GJB2 mutation causing their deafness.

    Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients.
    Burke WF, Warnecke A, Schöner-Heinisch A, Lesinski-Schiedat A, Maier H, Lenarz T.

    Results indicate that homozygote p.V27I/p.E114G of GJB2 is associated with mild and moderate hereditary nonsyndromic hearing loss in Chinese infants.

    The homozygote p.V27I/p.E114G variant of GJB2 is a putative indicator of nonsyndromic hearing loss in Chinese infants.
    Chen WX, Huang Y, Yang XL, Duan B, Lu P, Wang Y, Xu ZM.

    Connexin26 I30N and D50Y mutations resulted in the retention of Cx26 protein in the Golgi apparatus.

    Altered cellular localization and hemichannel activities of KID syndrome associated connexin26 I30N and D50Y mutations.
    Aypek H, Bay V, Meşe G., Free PMC Article

    The results show a very high proportion of GJB2-positive individuals in Lithuanian patients affected with sensorineural hearing loss.

    The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.
    Mikstiene V, Jakaitiene A, Byckova J, Gradauskiene E, Preiksaitiene E, Burnyte B, Tumiene B, Matuleviciene A, Ambrozaityte L, Uktveryte I, Domarkiene I, Rancelis T, Cimbalistiene L, Lesinskas E, Kucinskas V, Utkus A., Free PMC Article

    Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population.

    Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population.
    Taniguchi M, Matsuo H, Shimizu S, Nakayama A, Suzuki K, Hamajima N, Shinomiya N, Nishio S, Kosugi S, Usami S, Ito J, Kitajiri S., Free PMC Article

    Cx26 overexpression by transfection of Cx26 plasmid DNA enhanced OXA cytotoxicity.

    Impaired gap junctions in human hepatocellular carcinoma limit intrinsic oxaliplatin chemosensitivity: A key role of connexin 26.
    Yang Y, Zhu J, Zhang N, Zhao Y, Li WY, Zhao FY, Ou YR, Qin SK, Wu Q.

    We have found a 148G-A transition in the GJB2 gene, resulting in an asp50-to-asn (D50N) substitution in a girl with congenital deafness. This finding allowed us to diagnose small a, Cyrillic KID syndrome.

    Phenotype in a patient with p.D50N mutation in GJB2 gene resemble both KID and Clouston syndromes.
    Markova TG, Brazhkina NB, Bliznech EA, Bakhshinyan VV, Polyakov AV, Tavartkiladze GA.

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