GJB2

Summary

Gene Symbol: GJB2
Description: gap junction protein beta 2
Alias: CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK, gap junction beta-2 protein, connexin 26, gap junction protein, beta 2, 26kDa, mutant gap junction protein beta 2
Species: human
Products:     GJB2

Top Publications

  1. Yao J, Lu Y, Wei Q, Cao X, Xing G. A systematic review and meta-analysis of 235delC mutation of GJB2 gene. J Transl Med. 2012;10:136 pubmed publisher
    The 235delC mutation of GJB2 gene is considered as a risk factor for the non-syndromic hearing loss (NSHL), and a significant difference in the frequency and distribution of the 235delC mutation has been described world widely...
  2. Choi S, Park H, Lee K, Dinh E, Chang Q, Ahmad S, et al. Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss. Hum Mutat. 2009;30:E716-27 pubmed publisher
    Mutations in the GJB2 gene, which encodes the gap junction (GJ) protein connexin26 (Cx26), are the most common cause of inherited non-syndromic hearing loss (NSHL). We identified two missense mutations, p.D46E (c.138T>G) and p.T86R (c...
  3. Utrera R, Ridaura V, Rodríguez Y, Rojas M, Mago L, Angeli S, et al. Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss. Genet Test. 2007;11:347-52 pubmed publisher
    ..hearing loss (ARNSHL) is mutation in GJB2, a gene on chromosome 13, which encodes a gap junction protein named Connexin 26. Mutations in GJB2 are responsible for 40% of genetic childhood deafness...
  4. Kokotas H, Van Laer L, Grigoriadou M, Iliadou V, Economides J, Pomoni S, et al. Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population. Am J Med Genet A. 2008;146A:2879-84 pubmed publisher
    ..severe to profound hearing impairment cases result from mutations in a single gene, GJB2, that encodes the connexin 26 protein...
  5. Yu F, Han D, Dai P, Kang D, Zhang X, Liu X, et al. [Mutation of GJB2 gene in nonsyndromic hearing impairment patients: analysis of 1190 cases]. Zhonghua Yi Xue Za Zhi. 2007;87:2814-9 pubmed
    To analyze the sequence of GJB2 gene in nonsyndromic hearing impairment (NSHI) patients in China...
  6. Oshima A, Tani K, Hiroaki Y, Fujiyoshi Y, Sosinsky G. Projection structure of a N-terminal deletion mutant of connexin 26 channel with decreased central pore density. Cell Commun Adhes. 2008;15:85-93 pubmed publisher
    ..The three-dimensional structure of a mutant human connexin 26 (Cx26M34A) by electron cryocrystallography revealed a plug-like density in the channel pore suggesting that ..
  7. Fiori M, Figueroa V, Zoghbi M, Saez J, Reuss L, Altenberg G. Permeation of calcium through purified connexin 26 hemichannels. J Biol Chem. 2012;287:40826-34 pubmed publisher
    ..Indirect evidence suggests that connexin hemichannels are permeable to Ca(2+), but direct demonstration is lacking...
  8. Terrinoni A, Codispoti A, Serra V, Bruno E, Didona B, Paradisi M, et al. Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss. Biochem Biophys Res Commun. 2010;395:25-30 pubmed publisher
    ..is inherited as an autosomic dominant disease, due to mutations in the gene encoding gap junction protein GJB2 (connexin 26, Cx26)...
  9. Bonyadi M, Esmaeili M, Abhari M, Lotfi A. Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients. Genet Test Mol Biomarkers. 2009;13:689-92 pubmed publisher
    Mutations in the GJB2 gene-encoding connexin 26 protein are the main cause for autosomal recessive nonsyndromic hearing loss worldwide...

More Information

Publications109 found, 100 shown here

  1. Yuan Y, Yu F, Wang G, Huang S, Yu R, Zhang X, et al. Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2. J Transl Med. 2010;8:127 pubmed publisher
    Mutations in the GJB2 gene are the most common cause of nonsyndromic recessive hearing loss in China...
  2. Wilch E, Azaiez H, Fisher R, Elfenbein J, Murgia A, Birkenhäger R, et al. A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression. Clin Genet. 2010;78:267-74 pubmed publisher
    ..were found to be homozygous for the common 35delG mutation of GJB2, the gene encoding the gap junction protein Connexin 26. Surprisingly, four additional family members with bilateral profound SNHL carried only a single 35delG ..
  3. Putcha G, Bejjani B, Bleoo S, Booker J, Carey J, Carson N, et al. A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med. 2007;9:413-26 pubmed
    The aim of the study was to determine the actual GJB2 and GJB6 mutation frequencies in North America after several years of generalized testing for autosomal recessive nonsyndromic sensorineural hearing loss to help guide diagnostic ..
  4. Tsukada K, Nishio S, Usami S. A large cohort study of GJB2 mutations in Japanese hearing loss patients. Clin Genet. 2010;78:464-70 pubmed publisher
    b>GJB2 is the gene most frequently associated with hereditary hearing loss, and the GJB2 mutation spectrums vary among different ethnic groups...
  5. Abe S, Yamaguchi T, Usami S. Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay. Genet Test. 2007;11:333-40 pubmed
    ..A total of 100 (29.6%) subjects had at least one mutation in GJB2, SLC26A4, and/or the mitochondrial 12S rRNA, indicating that these are the three major causative genes in Japanese ..
  6. Chan D, Schrijver I, Chang K. Connexin-26-associated deafness: phenotypic variability and progression of hearing loss. Genet Med. 2010;12:174-81 pubmed publisher
    To evaluate genotype-phenotype correlation over time for a cohort of children with connexin-26 (GJB2)-associated autosomal recessive hearing loss...
  7. Dai P, Yu F, Han B, Liu X, Wang G, Li Q, et al. GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment. J Transl Med. 2009;7:26 pubmed publisher
    Mutations in GJB2 are the most common molecular defects responsible for autosomal recessive nonsyndromic hearing impairment (NSHI). The mutation spectra of this gene vary among different ethnic groups...
  8. Sánchez H, Mese G, Srinivas M, White T, Verselis V. Differentially altered Ca2+ regulation and Ca2+ permeability in Cx26 hemichannels formed by the A40V and G45E mutations that cause keratitis ichthyosis deafness syndrome. J Gen Physiol. 2010;136:47-62 pubmed publisher
    Mutations in GJB2, which encodes Cx26, are one of the most common causes of inherited deafness in humans...
  9. de Zwart Storm E, Rosa R, Martin P, Foelster Holst R, Frank J, Bau A, et al. Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes. Exp Dermatol. 2011;20:408-12 pubmed publisher
    ..gap junction protein, cause a wide variety of skin disorders including keratitis-ichthyosis-deafness syndrome (KID). We previously delineated a phenotype distinct from KID, hypotrichosis-deafness syndrome, caused by the mutation p...
  10. Mese G, Sellitto C, Li L, Wang H, Valiunas V, Richard G, et al. The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome. Mol Biol Cell. 2011;22:4776-86 pubmed publisher
    Mutations in the GJB2 gene (Cx26) cause deafness in humans. Most are loss-of-function mutations and cause nonsyndromic deafness...
  11. Padma G, Ramchander P, Nandur U, Padma T. GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment. J Genet. 2009;88:267-72 pubmed
    ..Several mutations in the GJB2 gene and a deletion of 342 kb in GJB6 gene (delGJB6-D13S1830) have been identified worldwide in patients with ..
  12. Kokotas H, Grigoriadou M, Korres G, Ferekidou E, Giannoulia Karantana A, Kandiloros D, et al. Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?. J Hum Genet. 2010;55:265-9 pubmed publisher
    ..Here we summarize evidence regarding modifying genes, and we discuss the effect of the coexistence of mitochondrial and GJB2 mutations in families reported to date.
  13. Tang H, Fang P, Ward P, Schmitt E, Darilek S, Manolidis S, et al. DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. Am J Med Genet A. 2006;140:2401-15 pubmed
    Mutations in GJB2 are associated with hereditary hearing loss. DNA sequencing of GJB2 in a cohort of hearing impaired patients and a multi-ethnic control group is reported...
  14. Pollak A, Mueller Malesinska M, Skorka A, Kostrzewa G, Ołdak M, Korniszewski L, et al. GJB2 and hearing impairment: promoter defects do not explain the excess of monoallelic mutations. J Med Genet. 2008;45:607-8 pubmed publisher
  15. Xiao Z, Yang Z, Liu X, Xie D. Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss. Acta Otolaryngol. 2011;131:59-66 pubmed publisher
    This study demonstrated that five Cx26 mutations (R32H, S199F, 572delT, 631-632delGT, and Y155X) affect gap junction (GJ) functions by causing impaired membrane targeting and aberrant cellular localization, and one mutation (R165W) leads ..
  16. Yang X, Bai Cheng X, Chen X, Pan Pan B, Jian Li M, Xiao Wen L, et al. Common molecular etiology of patients with nonsyndromic hearing loss in Tibetan, Tu nationality, and Mongolian patients in the northwest of China. Acta Otolaryngol. 2013;133:930-4 pubmed publisher
    In the northwest of China, the prevalence of mutations of the three prominent deafness-related genes, GJB2, SLC26A4, and mitochondrial DNA (mtDNA) 12S rRNA, among Tibetan, Tu nationality, and Mongolian subjects is high, at 19%, 28...
  17. Kyo N, Yamamoto H, Takeda Y, Ezumi K, Ngan C, Terayama M, et al. Overexpression of connexin 26 in carcinoma of the pancreas. Oncol Rep. 2008;19:627-31 pubmed
    Contrary to the previously purported role of gap junction (GJ) associated-protein connexin 26 (Cx26) as a tumor suppressor, increased expression of Cx26 has recently been demonstrated in several human malignancies...
  18. Gerido D, DeRosa A, Richard G, White T. Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness. Am J Physiol Cell Physiol. 2007;293:C337-45 pubmed
    Mutations in the human GJB2 gene, which encodes connexin26 (Cx26), underlie various forms of hereditary deafness and skin disease...
  19. Ozawa H, Matsunaga T, Kamiya K, Tokumaru Y, Fujii M, Tomita T, et al. Decreased expression of connexin-30 and aberrant expression of connexin-26 in human head and neck cancer. Anticancer Res. 2007;27:2189-95 pubmed
    ..The expression of connexin-26 (Cx26) and connexin-30 (Cx30) in human head and neck carcinomas, as well as in adjacent normal mucosa, was evaluated by ..
  20. Dahl H, Tobin S, Poulakis Z, Rickards F, Xu X, Gillam L, et al. The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children. J Med Genet. 2006;43:850-5 pubmed
    ..with normal hearing participated in a genetic study investigating mutations in the GJB2 gene, coding for connexin 26, and the presence of the del(GJB6-D13S1830) and del(GJB6-D13S1854) deletions in the GJB6 gene, coding for ..
  21. Feldmann D, Le Maréchal C, Jonard L, Thierry P, Czajka C, Couderc R, et al. A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss. Eur J Med Genet. 2009;52:195-200 pubmed publisher
    Mutations in the GJB2 gene encoding the gap junction protein connexin 26 are responsible for up to 30% of all cases of autosomal recessive nonsyndromic hearing impairment (HI) with prelingual onset in most populations...
  22. Sansovic I, Knezevic J, Musani V, Seeman P, Barisic I, Pavelic J. GJB2 mutations in patients with nonsyndromic hearing loss from Croatia. Genet Test Mol Biomarkers. 2009;13:693-9 pubmed publisher
    The aim of the study was to determine (1) the frequency and type of mutations in the coding region of the GJB2 gene (sequencing), (2) the frequency of splice site mutation IVS1 + 1G > A in the GJB2 gene (multiplex ligation-dependent ..
  23. Huckstepp R, Eason R, Sachdev A, Dale N. CO2-dependent opening of connexin 26 and related ? connexins. J Physiol. 2010;588:3921-31 pubmed publisher
    ..Given the localization of connexin 26 (Cx26) to the chemosensing areas of the medulla, we have tested in a heterologous expression system (HeLa cells)..
  24. Dzhemileva L, Barashkov N, Posukh O, Khusainova R, Akhmetova V, Kutuev I, et al. Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia. J Hum Genet. 2010;55:749-54 pubmed publisher
    ..b>GJB2 gene mutations make the largest contribution to hereditary hearing impairment...
  25. Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, Loundon N, et al. SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet. 2006;14:773-9 pubmed
    ..SLC26A4 could be the second most frequent gene implicated in nonsyndromic deafness after GJB2, in this Caucasian population.
  26. Arita K, Akiyama M, Aizawa T, Umetsu Y, Segawa I, Goto M, et al. A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26. Am J Pathol. 2006;169:416-23 pubmed
    ..The N-terminal 21 amino acids of Cx26 are located at the cytoplasmic side of the channel pore and are thought to be essential for the regulation of ..
  27. Primignani P, Trotta L, Castorina P, Lalatta F, Sironi F, Radaelli C, et al. Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss. Genet Test Mol Biomarkers. 2009;13:209-17 pubmed publisher
    Mutations in the GJB2 gene, which encodes the gap-junction protein connexin 26, are the most common cause of nonsyndromic hearing loss (NSHL) and account for about 32% of cases...
  28. Terrinoni A, Codispoti A, Serra V, Didona B, Bruno E, Nistico R, et al. Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. Biochem Biophys Res Commun. 2010;394:909-14 pubmed publisher
    The autosomic dominant KID Syndrome (MIM 148210), due to mutations in GJB2 (connexin 26, Cx26), is an ectodermal dysplasia with erythematous scaly skin lesions, keratitis and severe bilateral sensorineural deafness...
  29. Zonta F, Polles G, Zanotti G, Mammano F. Permeation pathway of homomeric connexin 26 and connexin 30 channels investigated by molecular dynamics. J Biomol Struct Dyn. 2012;29:985-98 pubmed
    Mutations in the genes GJB2 and GJB6 encoding human connnexin26 (hCx26) and connexin30 (hCx30), respectively, are the leading cause of non-syndromic prelingual deafness in several human populations...
  30. Liu X, Furuya T, Li D, Xu J, Cao X, Li Q, et al. Connexin 26 expression correlates with less aggressive phenotype of intestinal type-gastric carcinomas. Int J Mol Med. 2010;25:709-16 pubmed
    b>Connexin 26 (Cx26), one of the gap junction-forming family members, is more controversial than other members, as a tumor suppressor...
  31. Sirmaci A, Akcayoz Duman D, Tekin M. The c.IVS1+1G>A mutation in the GJB2 gene is prevalent and large deletions involving the GJB6 gene are not present in the Turkish population. J Genet. 2006;85:213-6 pubmed
  32. Oshima A, Tani K, Hiroaki Y, Fujiyoshi Y, Sosinsky G. Three-dimensional structure of a human connexin26 gap junction channel reveals a plug in the vestibule. Proc Natl Acad Sci U S A. 2007;104:10034-9 pubmed
    ..Connexin26 (Cx26) is the second smallest member of the gap junction protein family, and mutations in Cx26 cause certain hereditary ..
  33. de Zwart Storm E, Hamm H, Stoevesandt J, Steijlen P, Martin P, van Geel M, et al. A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. J Med Genet. 2008;45:161-6 pubmed
    ..One of the skin expressed gap junction genes is GJB2, which codes for connexin 26 and is associated with a wide variety of keratinisation disorders...
  34. Maeda S, Nakagawa S, Suga M, Yamashita E, Oshima A, Fujiyoshi Y, et al. Structure of the connexin 26 gap junction channel at 3.5 A resolution. Nature. 2009;458:597-602 pubmed publisher
    ..Here we report the crystal structure of the gap junction channel formed by human connexin 26 (Cx26, also known as GJB2) at 3...
  35. Choi S, Lee K, Kim H, Kim H, Chang Q, Park H, et al. Functional evaluation of GJB2 variants in nonsyndromic hearing loss. Mol Med. 2011;17:550-6 pubmed publisher
    Mutations in the gap junction ?2 (GJB2) gene, encoding the connexin26 (CX26) protein, are the most common cause of non-syndromic hearing loss (HL) in many populations. In the East Asian population, two variants, p.V27I (c.79G>A) and p...
  36. Teek R, Oitmaa E, Kruustük K, Zordania R, Joost K, Raukas E, et al. Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss. Int J Pediatr Otorhinolaryngol. 2009;73:103-7 pubmed publisher
    ..family members with an arrayed primer extension (APEX) microarray, which covers 201 mutations in six nuclear genes (GJB2, GJB6, GJB3, GJA1, SLC26A4, SLC26A5) and two mitochondrial genes encoding 12S rRNA and tRNA-Ser (UCN)...
  37. Oshima A, Tani K, Toloue M, Hiroaki Y, Smock A, Inukai S, et al. Asymmetric configurations and N-terminal rearrangements in connexin26 gap junction channels. J Mol Biol. 2011;405:724-35 pubmed publisher
    ..Comparing this closed structure with the recently published X-ray structure of wild-type Cx26, which is proposed to be in an open state, revealed a radial outward shift in the transmembrane helices in the ..
  38. Kim S, Lee B, Lim J, Ryu H, Yang J, Chung J, et al. Determination of the carrier frequencies of selected GJB2 mutations in the Korean population. Int J Audiol. 2011;50:694-8 pubmed publisher
    Mutations in the GJB2 gene are a major cause of hereditary hearing loss. However, only a few studies have investigated carrier frequencies of GJB2 mutations in the general population...
  39. de Zwart Storm E, van Geel M, van Neer P, Steijlen P, Martin P, van Steensel M. A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. Am J Pathol. 2008;173:1113-9 pubmed publisher
    ..In the skin, connexins are involved in the regulation of epidermal growth and differentiation. GJB2 encodes connexin26, which is an important skin-expressed gap junction protein...
  40. Mani R, Ganapathy A, Jalvi R, Srikumari Srisailapathy C, Malhotra V, Chadha S, et al. Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss. Eur J Hum Genet. 2009;17:502-9 pubmed publisher
    In a study of 530 individuals with non-syndromic, sensorineural hearing loss, we identified 18 mutations at connexin 26 (Cx26), four of which are novel (-23G>T, I33T, 377_383dupTCCGCAT, W172R) and the remaining 14 (ivs1+1G>A, M1V, ..
  41. Han S, Park H, Kang E, Ryu J, Lee A, Yang Y, et al. Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population. J Hum Genet. 2008;53:1022-8 pubmed publisher
    Mutations in the GJB2 gene are associated with hereditary hearing loss. Although most studies of GJB2 mutations have dealt with hearing-impaired patients, there are few reports of the frequency of these mutations in the general population...
  42. Chen D, Chen X, Cao K, Zuo J, Jin X, Wei C, et al. High prevalence of the connexin 26 (GJB2) mutation in Chinese cochlear implant recipients. ORL J Otorhinolaryngol Relat Spec. 2009;71:212-5 pubmed publisher
    The GJB2 gene, mapping to chromosome 13q12, encodes a gap junction protein, connexin 26, and is responsible for certain forms of congenital deafness, such as DFNB1 and DFNA3...
  43. Nomura S, Maeda K, Noda E, Inoue T, Fukunaga S, Nagahara H, et al. Clinical significance of the expression of connexin26 in colorectal cancer. J Exp Clin Cancer Res. 2010;29:79 pubmed publisher
    Connexin26 (Cx26) is one of the connexins (Cxs) family members which form gap junction channels. Cx26 is considered to be a tumor suppressor gene...
  44. Li L, Lü J, Tao Z, Huang Q, Chai Y, Li X, et al. The p.V37I exclusive genotype of GJB2: a genetic risk-indicator of postnatal permanent childhood hearing impairment. PLoS ONE. 2012;7:e36621 pubmed publisher
    ..In this study, we detected a strong association of the p.V37I exclusive genotype of GJB2 with postnatal PCHI in Chinese Hans (P?=?1.4×10(-10); OR 62.92, 95% CI 21.27-186.12)...
  45. Mhaske P, Levit N, Li L, Wang H, Lee J, Shuja Z, et al. The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity. Am J Physiol Cell Physiol. 2013;304:C1150-8 pubmed publisher
    Mutations in the human gene encoding connexin 26 (Cx26 or GJB2) cause either nonsyndromic deafness or syndromic deafness associated with skin diseases...
  46. Samanich J, Lowes C, Burk R, Shanske S, Lu J, Shanske A, et al. Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment. Am J Med Genet A. 2007;143A:830-8 pubmed
    ..Approximately half result from mutations in the connexin 26 (Cx26) gene, GJB2, in Caucasian populations...
  47. Mazereeuw Hautier J, Bitoun E, Chevrant Breton J, Man S, Bodemer C, Prins C, et al. Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. Br J Dermatol. 2007;156:1015-9 pubmed
    ..KID syndrome is caused by autosomal dominant mutations in the connexin 26 gene (GJB2). To establish whether there is a correlation between genotype and phenotype in KID syndrome...
  48. Jonard L, Feldmann D, Parsy C, Freitag S, Sinico M, Koval C, et al. A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. Eur J Med Genet. 2008;51:35-43 pubmed
    ..KID appears to be genetically heterogeneous and may be caused by mutations in connexin 26 or connexin 30 genes. GJB2 mutations in the connexin 26 gene are the main cause of the disease...
  49. Schimmenti L, Martinez A, Telatar M, Lai C, Shapiro N, Fox M, et al. Infant hearing loss and connexin testing in a diverse population. Genet Med. 2008;10:517-24 pubmed publisher
    ..We enrolled 95 infants with hearing loss from whom both exons of Cx26 were sequenced and the Cx30 deletion was assayed...
  50. da Silva Costa S, Coeli F, Lincoln de Carvalho C, Marques de Faria A, Kurc M, Pereira T, et al. Screening for the GJB2 c.-3170 G>A (IVS 1+1 G>A) mutation in Brazilian deaf individuals using multiplex ligation-dependent probe amplification. Genet Test Mol Biomarkers. 2009;13:701-4 pubmed publisher
    Mutations in GJB2 gene are the most common cause of nonsyndromic sensorineural recessive hearing loss. One specific mutation, c...
  51. Ambrosi C, Boassa D, Pranskevich J, Smock A, Oshima A, Xu J, et al. Analysis of four connexin26 mutant gap junctions and hemichannels reveals variations in hexamer stability. Biophys J. 2010;98:1809-19 pubmed publisher
    ..These mutations do not affect Cx26 trafficking in mammalian cells, and make normal-appearing channels in baculovirus-infected Sf9 membranes when ..
  52. Man Y, Trolove C, Tattersall D, Thomas A, Papakonstantinopoulou A, Patel D, et al. A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro. J Membr Biol. 2007;218:29-37 pubmed
    A large proportion of recessive nonsyndromic hearing loss is due to mutations in the GJB2 gene encoding connexin 26 (Cx26), a component of a gap junction...
  53. Li Q, Dai P, Huang D, Zhang J, Wang G, Zhu Q, et al. [Prevalence of GJB2 mutations in Uigur and Han ethnic populations with deafness in Xinjiang region of China]. Zhonghua Yi Xue Za Zhi. 2007;87:2977-81 pubmed
    To investigate the prevalence of GJB2 mutations in Uigur and Han ethnic groups in Xinjiang Uigur Autonomous Region, China and to understand the mutation spectrum and frequency of the GJB2 gene in these 2 ethnic groups...
  54. Guo Y, Liu X, Guan J, Han M, Wang D, Zhao Y, et al. GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects. Acta Otolaryngol. 2008;128:297-303 pubmed publisher
    ..in Northern Chinese patients can be detected at younger ages by genetic testing of three common hearing loss genes (GJB2, SLC26A4 and mtDNA A1555G), and thus, early intervention measures could be undertaken to help them in language ..
  55. Matos T, Caria H, Simões Teixeira H, Aasen T, Dias O, Andrea M, et al. A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. Hear Res. 2008;240:87-92 pubmed publisher
    Mutations in GJB2 gene (encoding connexin 26) are the most common cause of hereditary non-syndromic sensorineural hearing loss (NSSHL) in different populations...
  56. Lazic T, Horii K, Richard G, Wasserman D, Antaya R. A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?. Pediatr Dermatol. 2008;25:535-40 pubmed publisher
    ..Several autosomal dominant mutations in the Connexin 26 gene (GJB2) have been discovered as a cause of this syndrome...
  57. Al Qahtani M, Baghlab I, Chaudhary A, Abuzenadah A, Bamanie A, Daghistani K, et al. Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia. Genet Test Mol Biomarkers. 2010;14:79-83 pubmed publisher
    ..the task of unraveling the genetic causes of hearing loss in Saudi Arabia, starting with identifying the GJB2/DFNB1 mutation spectrum in a cohort of unrelated individuals suffering from mild to profound NSHL...
  58. Tekin M, Xia X, Erdenetungalag R, Cengiz F, White T, Radnaabazar J, et al. GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf. Ann Hum Genet. 2010;74:155-64 pubmed publisher
    We screened the GJB2 gene for mutations in 534 (108 multiplex and 426 simplex) probands with non-syndromic sensorineural deafness, who were ascertained through the only residential school for the deaf in Mongolia, and in 217 hearing ..
  59. Rodriguez Paris J, Pique L, Colen T, Roberson J, Gardner P, Schrijver I. Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice. PLoS ONE. 2010;5:e11804 pubmed publisher
    ..testing of individuals with congenital sensorineural hearing loss typically begins with DNA sequencing of the GJB2 gene. If the cause of the hearing loss is not identified in GJB2, additional testing can be ordered...
  60. Teek R, Kruustük K, Zordania R, Joost K, Reimand T, Möls T, et al. Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia. Int J Pediatr Otorhinolaryngol. 2010;74:1007-12 pubmed publisher
    The purpose of this study was to determine the prevalence of c.35delG and p.M34T mutations in the GJB2 gene among children with early onset hearing loss and within a general population of Estonia...
  61. Barashkov N, Dzhemileva L, Fedorova S, Teryutin F, Posukh O, Fedotova E, et al. Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect. J Hum Genet. 2011;56:631-9 pubmed publisher
    ..study, we present data on the molecular, audiological and population features of autosomal recessive deafness 1A (DFNB1A) associated with the donor splicing site IVS1+1G>A mutation of GJB2 gene in Yakut population isolate of the ..
  62. Naoi Y, Miyoshi Y, Taguchi T, Kim S, Arai T, Tamaki Y, et al. Connexin26 expression is associated with lymphatic vessel invasion and poor prognosis in human breast cancer. Breast Cancer Res Treat. 2007;106:11-7 pubmed
    b>Cx26, which is a constituent of the connexin family, has recently been shown to promote metastasis through enhancing the vascular invasion in mouse melanoma cells...
  63. Matos T, Caria H, Simões Teixeira H, Aasen T, Nickel R, Jagger D, et al. A novel hearing-loss-related mutation occurring in the GJB2 basal promoter. J Med Genet. 2007;44:721-5 pubmed
    Mutations in the GJB2 gene are a major cause of non-syndromic recessive hearing loss in many countries...
  64. Pollak A, Skorka A, Mueller Malesińska M, Kostrzewa G, Kisiel B, Waligóra J, et al. M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance. Am J Med Genet A. 2007;143A:2534-43 pubmed
    Despite research the role of the M34T and V37I variants of GJB2 in causing hearing impairment (HI) remains controversial...
  65. Lee K, Choi S, Bae J, Kim S, Chung K, Drayna D, et al. Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients. Int J Pediatr Otorhinolaryngol. 2008;72:1301-9 pubmed publisher
    Mutations in the GJB2, GJB6 and SLC26A4 genes are a frequent cause of hearing loss in a number of populations. However, little is known about the genetic causes of hearing loss in the Korean population...
  66. Bajaj Y, Sirimanna T, Albert D, Qadir P, Jenkins L, Bitner Glindzicz M. Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population. Clin Otolaryngol. 2008;33:313-8 pubmed publisher
    Mutations in Gap Junction Beta 2 (GJB2) (the gene encoding the protein Connexin 26) have been found to be a major cause of non-syndromic sensorineural recessive deafness...
  67. Guastalla P, Guerci V, Fabretto A, Faletra F, Grasso D, Zocconi E, et al. Detection of epidermal thickening in GJB2 carriers with epidermal US. Radiology. 2009;251:280-6 pubmed publisher
    ..carriers for the worldwide most frequent form of congenital hearing loss owing to the mutated alleles of the connexin 26 gene (GJB2)...
  68. Bhalla S, Sharma R, Khandelwal G, Panda N, Khullar M. Low incidence of GJB2, GJB6 and mitochondrial DNA mutations in North Indian patients with non-syndromic hearing impairment. Biochem Biophys Res Commun. 2009;385:445-8 pubmed publisher
    Mutations at the DFNB1 locus which encode connexin 26 (CX26) and connexin 30 (CX30) proteins, respectively, are main cause for sporadic and familial non-syndromic hearing impairment (NSHI) in many populations...
  69. Yilmaz A, Menevse S, Bayazit Y, Karamert R, Ergin V, Menevse A. Two novel missense mutations in the connexin 26 gene in Turkish patients with nonsyndromic hearing loss. Biochem Genet. 2010;48:248-56 pubmed publisher
    Most nonsyndromic hearing losses are caused by mutations in the GJB2 gene, and studies have revealed that the forms and frequencies of these mutations are largely dependent on ethnic origin...
  70. Li Q, Fang R, Wang G, Liu F, Dai P. [Tonal audiometry of GJB2 235delC single heterozygous mutation carriers]. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2011;46:543-6 pubmed
    To analyze GJB2 235delC monoallelic mutation carrier individuals and test the possible presence and incidence of audiometric abnormalities among 30-60 years old carriers of the 235delC mutations...
  71. Bicego M, Beltramello M, Melchionda S, Carella M, Piazza V, Zelante L, et al. Pathogenetic role of the deafness-related M34T mutation of Cx26. Hum Mol Genet. 2006;15:2569-87 pubmed
    Mutations in the GJB2 gene, which encodes the gap junction protein connexin26 (Cx26), are the major cause of genetic non-syndromic hearing loss. The role of the allelic variant M34T in causing hereditary deafness remains controversial...
  72. Welch K, Marin R, Pandya A, Arnos K. Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature. Am J Med Genet A. 2007;143A:1567-73 pubmed
    Mutations in GJB2 (which encodes the gap-junction protein connexin 26) are the most common cause of genetic deafness in many populations. To date, more than 100 deafness-causing mutations have been described in this gene...
  73. Dai P, Yu F, Han B, Yuan Y, Li Q, Wang G, et al. The prevalence of the 235delC GJB2 mutation in a Chinese deaf population. Genet Med. 2007;9:283-9 pubmed
    Mutations in the GJB2 gene are the most frequently found mutations in patients with nonsyndromic hearing impairment in populations studied to date. However, the prevalence of mutations varies among different ethnic groups...
  74. Tamayo M, Olarte M, Gelvez N, Gomez M, Frias J, Bernal J, et al. Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: results of a screening program. Int J Pediatr Otorhinolaryngol. 2009;73:97-101 pubmed publisher
    ..program to define the prevalence of non-syndromic deafness and establish the frequency of mutations in the GJB2 gene (Cx26) in a population of children with congenital deafness in Bogotá, Colombia...
  75. Yuan Y, You Y, Huang D, Cui J, Wang Y, Wang Q, et al. Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China. J Transl Med. 2009;7:79 pubmed publisher
    ..Screening was performed for GJB2, GJB3, GJB6, SLC26A4, 12S rRNA, and tRNAser(UCN) genes in this population...
  76. Locke D, Bian S, Li H, Harris A. Post-translational modifications of connexin26 revealed by mass spectrometry. Biochem J. 2009;424:385-98 pubmed publisher
    Gap junctions play important roles in auditory function and skin biology; mutations in the Cx26 (connexin26) gene are the predominant cause of inherited non-syndromic deafness and cause disfiguring skin disorders...
  77. Dalamon V, Lotersztein V, Béhèran A, Lipovsek M, Diamante F, Pallares N, et al. GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population. Audiol Neurootol. 2010;15:194-202 pubmed publisher
    ..Leu10Pro) in the N terminal domain and c.326 G>T (p.Gly109Val) in the intracytoplasmic domain of connexin 26. This work shows the high prevalence of GJB2 mutations in the Argentinean population, with frequencies that are ..
  78. Yuan Y, Zhang X, Huang S, Zuo L, Zhang G, Song Y, et al. Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment. PLoS ONE. 2012;7:e30720 pubmed publisher
    ..Five prominent deafness-related genes, GJB2, SLC26A4, GJB6, POU3F4, and mtDNA 12S rRNA, were analyzed. Inner ear development was evaluated by temporal CT...
  79. Zainal S, Md Daud M, Abd Rahman N, Zainuddin Z, Alwi Z. Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss. Int J Pediatr Otorhinolaryngol. 2012;76:1175-9 pubmed publisher
    To identify the mutations in the GJB2 gene and to determine its association with non-syndromic hearing loss in Malays. A comparative cross sectional study was conducted on a group of children from the deaf schools and the normal schools...
  80. Hashemi S, Ashraf M, Saboori M, Azarpira N, Darai M. Prevalence of GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndromic sensorineural hearing loss. Mol Biol Rep. 2012;39:10481-7 pubmed publisher
    Hereditary hearing loss is a genetically heterogeneous disorder. Mutations in connexin 26 (CX26), are a major cause in many countries and are largely dependent on ethnic groups...
  81. Lee J, DeRosa A, White T. Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus oocytes. J Invest Dermatol. 2009;129:870-8 pubmed publisher
    Mutations in the GJB2 gene-encoding connexin 26 (Cx26) have been linked to skin disorders and genetic deafness. However, the severity and type of the skin disorders caused by Cx26 mutations are heterogeneous...
  82. Liu X, Yuan Y, Yan D, Ding E, Ouyang X, Fei Y, et al. Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31. Hum Genet. 2009;125:53-62 pubmed publisher
    Mutations in the genes coding for connexin 26 (Cx26) and connexin 31 (Cx31) cause non-syndromic deafness...
  83. Rodriguez Paris J, Schrijver I. The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis. Biochem Biophys Res Commun. 2009;389:354-9 pubmed publisher
    b>Connexin 26 and connexin 30 are the major connexins expressed in the cochlea, where they are co-localized and form heteromeric gap junctions...
  84. Todt I, Mazereeuw Hautier J, Binder B, Willems P. Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26. Clin Genet. 2009;76:404-8 pubmed publisher
    ..Most cases are due to mutations in the GJB2 gene encoding connexin 26. The Dandy-Walker malformation (DWM) is a developmental anomaly of the midline of the cerebellum with complete ..
  85. Lee J, White T. Connexin-26 mutations in deafness and skin disease. Expert Rev Mol Med. 2009;11:e35 pubmed publisher
    ..Mutations in connexin genes cause a variety of human diseases. For example, mutations in GJB2, the gene encoding connexin-26 (Cx26), are not only a major cause of nonsyndromic deafness, but also cause ..
  86. Zhang J, Scherer S, Yum S. Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26. Mol Cell Neurosci. 2011;47:71-8 pubmed publisher
    Mutations in GJB2, the gene encoding the human gap junction protein connexin26 (Cx26), cause either non-syndromic hearing loss or syndromes affecting both hearing and skin...
  87. Ezumi K, Yamamoto H, Murata K, Higashiyama M, Damdinsuren B, Nakamura Y, et al. Aberrant expression of connexin 26 is associated with lung metastasis of colorectal cancer. Clin Cancer Res. 2008;14:677-84 pubmed publisher
    b>Connexin 26 (Cx26) is one of the gap junction-forming family members classically considered to be tumor suppressors...
  88. Dai P, Yu F, Han B, Wu H, Yuan Y, Li Q, et al. [Features of nationwide distribution and frequency of a common gap junction beta-2 gene mutation in China]. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2007;42:804-8 pubmed
    To determine the prevalence of a common GJB2 mutation in a big Chinese population of deaf children and the features of its distribution in regions all over the nation and to provide epidemiology data and expertise for genetic testing of ..
  89. Baysal E, Bayazit Y, Ceylaner S, Alatas N, Donmez B, Ceylaner G, et al. GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals. J Genet. 2008;87:53-7 pubmed
    This study aimed to assess mutations in GJB2 gene (connexin 26), as well as A1555G mitochondrial mutation in both the patients with profound genetic nonsyndromic hearing loss and healthy controls...
  90. Iossa S, Chinetti V, Auletta G, Laria C, De Luca M, Rienzo M, et al. New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma. Am J Med Genet A. 2009;149A:685-8 pubmed publisher
    The GJB2 gene located on chromosome 13q12 and encoding the connexin 26 (Cx26) protein, a transmembrane protein involved in cell-cell attachment of almost all tissues, including the skin, causes autosomal recessive and sometimes dominant ..
  91. Inose T, Kato H, Kimura H, Faried A, Tanaka N, Sakai M, et al. Correlation between connexin 26 expression and poor prognosis of esophageal squamous cell carcinoma. Ann Surg Oncol. 2009;16:1704-10 pubmed publisher
    ..Immunohistochemical staining for Cx26 was performed on surgical specimens obtained from 123 patients with ESCC...
  92. Chan D, Schrijver I, Chang K. Diagnostic yield in the workup of congenital sensorineural hearing loss is dependent on patient ethnicity. Otol Neurotol. 2011;32:81-7 pubmed publisher
    ..Recent studies on connexin 26-associated deafness demonstrate a wide range of phenotypes that vary with ethnicity...