GJB3

Summary

Gene Symbol: GJB3
Description: gap junction protein beta 3
Alias: CX31, DFNA2, DFNA2B, EKV, EKVP1, gap junction beta-3 protein, connexin 31, gap junction protein, beta 3, 31kDa
Species: human
Products:     GJB3

Top Publications

  1. Xia J, Liu C, Tang B, Pan Q, Huang L, Dai H, et al. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet. 1998;20:370-3 pubmed
    ..possible involvement of other members of the connexin family in hereditary hearing impairment, we cloned the gene (GJB3) encoding human gap junction protein beta-3 using homologous EST searching and nested PCR...
  2. He L, Liu Y, Cai F, Tan Z, Pan Q, Liang d, et al. Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells. Acta Biochim Biophys Sin (Shanghai). 2005;37:547-54 pubmed
    Mutations in connexin 31 (Cx31) are associated with erythrokeratodermia variabilis (EKV), hearing impairment and peripheral neuropathy; however, the pathological mechanism of Cx31 mutants remains unknown...
  3. Diestel S, Richard G, Döring B, Traub O. Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells. Biochem Biophys Res Commun. 2002;296:721-8 pubmed
    The autosomal dominant skin disorder erythrokeratodermia variabilis (EKV) has been linked to mutations in the human connexin31 (hCx31) gene, which is expressed in the epidermis...
  4. Di W, Monypenny J, Common J, Kennedy C, Holland K, Leigh I, et al. Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations. Hum Mol Genet. 2002;11:2005-14 pubmed
    Distinct germline mutations in the gene (GJB3) encoding connexin 31 (Cx31) underlie the skin disease erythrokeratoderma variabilis (EKV) or sensorineural hearing loss with/without peripheral neuropathy...
  5. Gottfried I, Landau M, Glaser F, Di W, Ophir J, Mevorah B, et al. A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. Hum Mol Genet. 2002;11:1311-6 pubmed
    ..disorder maps to chromosome 1p34-35, a location that contains the GJB3 gene encoding the gap junction protein connexin 31. Until now, only heterozygote mutations in the form of dominant inheritance have been described in this gene ..
  6. 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
    ..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)...
  7. 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...
  8. Tattersall D, Scott C, Gray C, Zicha D, Kelsell D. EKV mutant connexin 31 associated cell death is mediated by ER stress. Hum Mol Genet. 2009;18:4734-45 pubmed publisher
    ..Distinct dominantly inherited mutations in Cx31 cause the skin disease erythrokeratoderma variabilis (EKV) and hearing loss with or without neuropathy...
  9. Common J, O Toole E, Leigh I, Thomas A, Griffiths W, Venning V, et al. Clinical and genetic heterogeneity of erythrokeratoderma variabilis. J Invest Dermatol. 2005;125:920-7 pubmed
    ..In the skin, Cx31 and Cx30...

More Information

Publications95

  1. Lopez Bigas N, Olive M, Rabionet R, Ben David O, Martinez Matos J, Bravo O, et al. Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Hum Mol Genet. 2001;10:947-52 pubmed
    Mutations in the connexin 31 (GJB3) gene have been found in subjects with dominant and recessive deafness and in patients with erythrokeratodermia variabilis...
  2. Wilgoss A, Leigh I, Barnes M, Dopping Hepenstal P, Eady R, Walter J, et al. Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. J Invest Dermatol. 1999;113:1119-22 pubmed
    We report a missense mutation in the gap junction protein beta-3 (encoding Connexin 31), which was detected in only the affected members of a family in which the autosomal dominant skin disease erythrokeratoderma variabilis was ..
  3. Richard G, Smith L, Bailey R, Itin P, Hohl D, Epstein E, et al. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet. 1998;20:366-9 pubmed
    ..6 cM on 1p34-p35, and a candidate gene (GJA4) encoding the gap junction protein alpha-4 (connexin 31, Cx31) was excluded by sequence analysis...
  4. Liu X, Xia X, Xu L, Pandya A, Liang C, Blanton S, et al. Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. Hum Mol Genet. 2000;9:63-7 pubmed
    Mutations in the GJB3 gene encoding connexin31 (Cx31) can cause a dominant non-syndromic form of hearing loss (DFNA2)...
  5. Chu C, Chen Y, Lee Y, Jaung S, Lee F, Huang H. Government-funded universal newborn hearing screening and genetic analyses of deafness predisposing genes in Taiwan. Int J Pediatr Otorhinolaryngol. 2015;79:584-90 pubmed publisher
    To investigate the association of eight connexin genes (GJB2, GJB4, GJA1P1, GJB6, GJB3, GJA1, GJB1, and GJC3) and the SLC26A4 gene with congenital hearing impairment among infants in a universal newborn hearing screening program...
  6. Zhu X, Ruan Z, Yang X, Chu K, Wu H, Li Y, et al. Connexin 31.1 degradation requires the Clathrin-mediated autophagy in NSCLC cell H1299. J Cell Mol Med. 2015;19:257-64 pubmed publisher
    Connexins have relative short half-lives. Connexin 31.1 (Cx31.1) was newly reported to be down-regulated in non-small cell lung cancer cell lines, and displayed tumour-suppressive properties...
  7. He X, Li X, Guo Y, Zhao Y, Dong H, Dong J, et al. Newborn Screening of Genetic Mutations in Common Deafness Genes With Bloodspot-Based Gene Chip Array. Am J Audiol. 2018;27:57-66 pubmed publisher
    ..The 9 sites of 4 common deafness genes (GJB2, GJB3, SLC26A4, and mt 12S rRNA) were detected by bloodspot-based gene chip array in 2,500 newborns...
  8. Ouyang X, Yan D, Aslan I, Du L, Tekin M, Liu X. Mutation screening of the GJA7 (Cx45) gene in a large international series of probands with nonsyndromic hearing impairment. Genet Test Mol Biomarkers. 2011;15:333-6 pubmed publisher
    ..Currently, mutations in genes coding for five Cx proteins (Cx26, Cx30, Cx31, Cx32, and Cx43) have been shown to cause sensorineural hearing loss...
  9. Dai X, Li J, Hu X, Tong J, Cai W. [Autosomal dominant hearing loss resulting from mutation in the GJB2 gene:nonsyndromic presentation in a Chinese family]. Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2016;30:1939-1941;1945 pubmed publisher
    b>Objective:To investigate the genotype, phenotype and genetic features. The mutations in GJB2, GJB3, GJB6, SLC26A4 genes, 12SrRNA and tRNASer(UCN) were tested in a Chinese family with autosomal dominant nonsyndromic hearing loss...
  10. Beck C, Pérez Álvarez J, Sigruener A, Haubner F, Seidler T, Aslanidis C, et al. Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss. Eur Arch Otorhinolaryngol. 2015;272:2765-76 pubmed publisher
    ..individuals with hearing loss a three-step mutation screening program consisting of GJB2 in first line, then GJB1, GJB3 and GJB6 (second step) and if tested negative or heterozygote, testing of GJA1, GJB4, SLC26A4 and PJVK (third) was ..
  11. Ma D, Shen S, Gao H, Guo H, Lin Y, Hu Y, et al. A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report. BMC Med Genet. 2018;19:133 pubmed publisher
    ..of 127 known deafness-related genes because the individual tested negative for hotspot variants in the GJB2, GJB3, SLC26A4, and MTRNR1 genes. We identified a novel c.6892C?>?T (p.R2298*) nonsense mutation and a c...
  12. Yu H, Liu D, Yang J, Wu Z. Prevalence of mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 genes in 103 children with sensorineural hearing loss in Shaoxing, China. Ear Nose Throat J. 2018;97:E33-E38 pubmed
    Mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 genes are known to be a common cause of hearing loss...
  13. Xu L, Chen S, Qi X, Li X, Sun Y. Ginsenoside improves papillary thyroid cancer cell malignancies partially through upregulating connexin 31. Kaohsiung J Med Sci. 2018;34:313-320 pubmed publisher
    b>Connexin 31 (Cx31) is considered a suppressor for many tumors. Ginsenoside (Rg1) is a traditional Chinese herb that is widely acknowledged due to its anti-tumor characteristics...
  14. Zhang J, Duo L, Lin Z, Wang H, Yin J, Cao X, et al. Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. Gene. 2015;566:84-8 pubmed publisher
    ..No pathogenic mutations in GJB2, GJB3 and GJB6 genes were found in the siblings. By analysis of exome of the proband, we identified a novel missense (p...
  15. Li H, Chen Y, Mao Y, Ding Y, Xu X, Tang S. [Analysis and prenatal diagnosis of deafness-related gene mutations in patients with nonsyndromic hearing loss]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014;31:553-6 pubmed publisher
    ..Potential mutations of GJB2 (35delG, 176del16, 235delC, 299delAT), SLC26A4 (2168A> G, IVS7-2A> G), GJB3 (538C> T) and mtDNA (1494C> T, 12S rRNA 1555A> G) were detected by direct sequencing...
  16. Yang A, Geng M, Zhang H, Guo X, Tang J, Han F. [Analysis of deafness-related gene mutations in 100 non-syndromic hearing loss patients in Henan province]. Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2015;29:1959-62 pubmed
    ..history inquiry and clinical examination, Four common deafness genes GJB2, SLC26A4, mitochondrial 12SrRNA, and GJB3 were detected by Sanger sequencing method,and then data analysis were conducted. Among 100 patients with NSHL...
  17. Zhou Y, Yang H, Hao Z, Ma Y, Zhang Q, Li J, et al. [Detection of common deafness-related genes among non-syndromic deafness patients from Shanxi province]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015;32:183-6 pubmed publisher
    ..67%, and c.1555A>G of mitochondrial 12S rRNA has a mutation rate of 2.00%. No mutations have been found with GJB3 gene. Sequencing analysis has suggested that the above results have a consistency rate of 99%...
  18. Duchatelet S, Hovnanian A. Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia. J Invest Dermatol. 2015;135:1475-1478 pubmed publisher
    ..clinical and genetic heterogeneity, most often transmitted in an autosomal dominant manner, caused by mutations in GJB3 and GJB4 genes encoding connexins (Cx)31 and 30.3, respectively. In this issue, Boyden et al...
  19. Zong L, Zhu Y, Liang R, Zhao H. Gap junction mediated miRNA intercellular transfer and gene regulation: A novel mechanism for intercellular genetic communication. Sci Rep. 2016;6:19884 pubmed publisher
    ..the permeability to miRNAs demonstrated: Cx43 > Cx26/30 > Cx26 > Cx31 > Cx30 = Cx-null...
  20. Batissoco A, Salazar Silva R, Oiticica J, Bento R, Mingroni Netto R, Haddad L. A Cell Junctional Protein Network Associated with Connexin-26. Int J Mol Sci. 2018;19: pubmed publisher
    ..In addition, CGN co-immunoprecipitation with CX30, CX31, and CX43 indicates that CX association is independent on the CX C-terminus length or sequence...
  21. Liang Y, Wang K, Peng Q, Zhu P, Wu C, Rao C, et al. A novel variant in the CDH23 gene is associated with non-syndromic hearing loss in a Chinese family. Int J Pediatr Otorhinolaryngol. 2018;104:108-112 pubmed publisher
    ..in the proband who was tested negative for the twenty hotspot variants in four common deafness-related genes(GJB2, GJB3, SLC26A4 and MTRNR1); Clinical reassessments, including detailed audiological and ocular examinations were ..
  22. Tang F, Ma D, Wang Y, Qiu Y, Liu F, Wang Q, et al. Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder. BMC Med Genet. 2017;18:35 pubmed publisher
    ..deafness gene mutation screening was performed to identify the mutation sites in four deafness-related genes (GJB2, GJB3, 12S rRNA, and SLC26A4)...
  23. Kim S, Kim A, Kim N, Lee C, Kim M, Jeon E, et al. Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?. Medicine (Baltimore). 2016;95:e3029 pubmed publisher
    ..The etiology of additional two subjects was potentially explained by digenic etiology (N?=?2) of GJB2 with MITF and GJB3, respectively. The contribution of the single GJB2 mutation in the four remaining subjects is unclear...
  24. Chen S, Dong C, Wang Q, Zhong Z, Qi Y, Ke X, et al. Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss. Genet Test Mol Biomarkers. 2016;20:660-665 pubmed
    ..The entire length of the genes GJB2, SLC26A4, and GJB3, as well as exons of 57 additional candidate genes were sequenced from 116 individuals suffering from hearing loss...
  25. Abdul Wahab A, Takeichi T, Liu L, Stephens C, Akiyama M, McGrath J. Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10. Clin Exp Dermatol. 2016;41:290-3 pubmed publisher
    ..No additional mutations were identified in the genes for keratin 1 (KRT1) keratin 2 (KRT2), connexin 31 (GJB3) or connexin 30.3 (GJB4) that might account for the clinical heterogeneity seen in this family...
  26. Hosoya M, Fujioka M, Ogawa K, Okano H. Distinct Expression Patterns Of Causative Genes Responsible For Hereditary Progressive Hearing Loss In Non-Human Primate Cochlea. Sci Rep. 2016;6:22250 pubmed publisher
    ..We examined 20 genes whose expression in the cochlea has already been reported. The deafness genes GJB3, CRYM, GRHL2, DFNA5, and ATP6B1 were expressed in marmoset cochleae in patterns different from those in mouse ..
  27. Chen Y, Liu Y, Wang B, Mao J, Wang T, Ye K, et al. Development and validation of a fetal genotyping assay with potential for noninvasive prenatal diagnosis of hereditary hearing loss. Prenat Diagn. 2016;36:1233-1241 pubmed publisher
    ..NIPT of cell-free DNA for fetal NSHL mutations in the GJB2, GJB3 and SLC26A4 genes was performed by a multiplex cSMART assay...
  28. Kidder G, Cyr D. Roles of connexins in testis development and spermatogenesis. Semin Cell Dev Biol. 2016;50:22-30 pubmed publisher
    ..In the epididymis connexins 26, 30.3, Cx31.1, 32, and 43 have been identified and differentiation of the epithelium is associated with dramatic changes in ..
  29. Wong S, Wang W, Chen P, Li S, Yang J. Functional analysis of a nonsyndromic hearing loss-associated mutation in the transmembrane II domain of the GJC3 gene. Int J Med Sci. 2017;14:246-256 pubmed publisher
    ..W77S, in the GJC3 gene encoding connexin30.2/connexin31.3 (CX30.2/CX31.3) from patients with hearing loss. The functional alteration of CX30.2/CX31.3 caused by the p...
  30. Zhou Y, Zeng H, Li X, Yang H, Guo W, Hao Z, et al. [Identification of novel common mutations among patients with non-syndromic hearing loss with high-throughput gene capture technology]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016;33:758-761 pubmed
    ..was used to analyze 18 patients with NSHL in whom common mutations of deafness genes including GJB2, SLC26A4, GJB3, and mtDNA were excluded. Suspected mutation was verified with Sanger sequencing...
  31. Fang Y, Gu M, Suo F, Wang C, Liu X, Liu F. Application of gene detection technique in the antenatal diagnosis of hereditary hearing loss. Eur Rev Med Pharmacol Sci. 2017;21:1452-1455 pubmed
    ..in SLC26A4 (PDS) gene, 2 sites (1494C>T and 1555A>G) in 12s rRNA gene and 1 site (538C>T) in GJB3 gene, were detected using the GeeDom® 9-item hereditary hearing loss gene detection kit...
  32. Tian Y, Usman T, Tian K, Di J, Huang X, Xu X, et al. Comparative study of 13 candidate genes applying multi-reference normalization to detect the expression of different fineness in skin tissues of wool sheep. Genet Mol Res. 2017;16: pubmed publisher
    ..61, 0.65, and 0.52, respectively. The other genes tested (RPS6KA, ABCG2, GSTA1, PTPN13, GJB3, PPARD, and LAMB1) were similarly expressed in both types of wool sheep...
  33. Kim S, Kim A, Kim N, Kim M, Jeon E, Kim B, et al. Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population. J Transl Med. 2015;13:263 pubmed publisher
    ..or arSNHL without phenotypic markers, and their families, were tested for mutations in connexins GJB2, GJB6 and GJB3. Sanger sequencing of CDH23 p...
  34. Easton J, Albuloushi A, Kamps M, Brouns G, Broers J, Coull B, et al. A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death. Exp Dermatol. 2018;: pubmed publisher
    Erythrokeratodermia variabilis et progressiva (EKV-P) is caused by mutations in either the GJB3 (Cx31) or GJB4 genes (Cx30.3). We identified a rare GJB3 missense mutation, c.134G>A (p...
  35. Wu C, Lin Y, Liu T, Lin K, Yang W, Hsu C, et al. Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing. Medicine (Baltimore). 2015;94:e1073 pubmed publisher
    ..G292R variant. Mutations in the WFS1, GJB3, ESRRB, LRTOMT, MYO3A, and POU3F4 genes were detected in 7 (23%) of the 30 matched controls...
  36. Jiang H, Liu Q, Chen L. Screening and analysis of mutation hot-spots in deafness-associated genes among adolescents with hearing loss. Mol Med Rep. 2015;12:8179-84 pubmed publisher
    ..73% (14/59), 10.17% (6/59) and 5.08% (3/59), respectively, while no GJB3 mutation was detected...
  37. Kagiava A, Theophilidis G, Sargiannidou I, Kyriacou K, Kleopa K. Oxaliplatin-induced neurotoxicity is mediated through gap junction channels and hemichannels and can be prevented by octanol. Neuropharmacology. 2015;97:289-305 pubmed publisher
    ..Oxaliplatin also accelerated neurobiotin uptake in HeLa cells expressing the human ortholog of Cx29, Cx31.3, as well as dye transfer between cells expressing the human Cx32, and this effect was blocked by octanol...
  38. Fontes J, Ramsey J, Polk J, Koop A, Denisova J, Belousov A. Death of Neurons following Injury Requires Conductive Neuronal Gap Junction Channels but Not a Specific Connexin. PLoS ONE. 2015;10:e0125395 pubmed publisher
    ..mice, re-expression of functional gap junction channels, containing either neuronal Cx36 or non-neuronal Cx43 or Cx31, resulted in increased neuronal death following insult...
  39. Xiang L, Lin Q, Nie W, Hou Q, Li H, Li Y, et al. [Study of newborn hearing and genetic screening in Jinan]. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2015;50:401-5 pubmed
    ..Nine mutations [GJB2 (235delC, 35delG, 299delAT, 176del16), SLC26A4 (IVS7-2A>G,2168 A>G), GJB3 (538 C>T), 12SrRNA (1555 A>G, 1494C>T)] of 4 frequent genes associated with Chinese hearing loss were ..
  40. Peng Y, Sun D, Zhao L, Zhang Y, Zhao X. [Screening of mutations of deafness-related genes in women of child-bearing age from Shijiazhuang area]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016;33:462-5 pubmed publisher
    ..In 324 women, 9 mutational sites in 4 deafness-related genes (SLC26A4, GJB3, GJB2 and mtDNA 12s rRNA) were screened using a gene chip. Twenty women (6.17%) have carried mutations...
  41. Oh S, Choi S, Yu S, Lee K, Hong J, Hur S, et al. Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss. Biochim Biophys Acta. 2013;1832:285-91 pubmed publisher
    ..Connexins (Cx26 encoded by GJB2, Cx31 encoded by GJB3 and Cx30 encoded by GJB6) are core components of gap junctions in the inner ear...
  42. Wang J, Tan W, Li X, Zhang G, Huang J, Chen X, et al. [High-frequency echocardiography for assessment of regional wall motion abnormality and cardiac function in mice with myocardial infarction]. Nan Fang Yi Ke Da Xue Xue Bao. 2017;37:1014-1021 pubmed
    ..motion and cardiac function of mice were examined with pulsed wave Doppler (PWD), tissue Doppler imaging (TDI), EKV and M-mode echocardiography 3 days before and at 1 week after the operation...
  43. Li Y, Zhu B. Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes. Mol Med Rep. 2016;14:319-24 pubmed publisher
    ..to cause a type of deafness referred to as large vestibular aqueduct syndrome (LVAS), whereas mutations in the GJB3 gene have been associated with nonsyndromic deafness...
  44. Van Camp G, Coucke P, Kunst H, Schatteman I, van Velzen D, Marres H, et al. Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p. Genomics. 1997;41:70-4 pubmed
    ..Only a single family has been linked to each of these loci, with the exception of DFNA2. DFNA2 was originally mapped in two extended families originating from Indonesia and the United States...
  45. Chi J, Li L, Liu M, Tan J, Tang C, Pan Q, et al. Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death. PLoS ONE. 2012;7:e32531 pubmed publisher
    Mutations in Connexin-31 (Cx31) are associated with multiple human diseases including erythrokeratodermia variabilis (EKV). The molecular action of Cx31 pathogenic mutants remains largely elusive...
  46. Chinetti V, Iossa S, Auletta G, Corvino V, De Luca M, De Falco F, et al. Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme. Int J Audiol. 2011;50:866-70 pubmed publisher
    To determine the incidence of GJB2 and GJB3 mutations and of two deletions upstream of the GJB6 gene in infants of the Campania region of southern Italy...
  47. 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
    ..gene (multiplex ligation-dependent probe amplification analysis), (3) possible copy number changes in the GJB2, GJB3, GJB6, and WFS1 genes (multiplex ligation-dependent probe amplification analysis), and (4) the frequency of del(..
  48. Li Y, Jiang H, Yang L, Xu H, Li H, Li H, et al. [Study of mtDNA 12S rRNA A1555G, GJB2, GJB3 gene mutation in Uighur and Han people with hereditary nonsyndromic hearing loss in Xinjiang]. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2010;45:645-51 pubmed
    To study mtDNA, GJB2, GJB3 and determine gene mutation situs and frequency in Uighur and Han people with hereditary nonsyndromic hearing loss, and to compare the differences of gene mutation situs and frequency between Uighur and Han ..
  49. Yang J, Wang W, Lin Y, Weng H, Yang J, Hwang C, et al. Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation. Hum Genet. 2010;128:303-13 pubmed publisher
    ..We found the frequency of a sloping audiometric configuration was significantly higher for children with GJB2 and GJB3 variants than for those with GJB4 and GJC3 variants (Adjusted OR = 4.89, p < 0.001)...
  50. Guo B, Sun L, Cui Y, Yang S, Zhang X. Progressive symmetrical erythrokeratoderma: report of two Chinese families and evaluation for mutations in the loricrin, connexin 30.3 and connexin 31 genes. Clin Exp Dermatol. 2013;38:925-7 pubmed publisher
  51. Huang S, Huang B, Wang G, Kang D, Zhang X, Meng X, et al. The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population. Int J Pediatr Otorhinolaryngol. 2017;102:67-70 pubmed publisher
    Mutations in GJB3 were originally shown to underlie an autosomal dominant form of non-syndromic deafness in Chinese patients and the c.538C>T (p.R180*) variants caused high-frequency hearing loss...
  52. Plantard L, Huber M, Macari F, Meda P, Hohl D. Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis. Hum Mol Genet. 2003;12:3287-94 pubmed
    ..We recently identified mutations in either GJB3 or GJB4 genes, encoding respectively connexin 31 (Cx31) or 30.3 (Cx30...
  53. Gürtler N, Egenter C, Bösch N, Plasilova M. Mutation analysis of the Cx26, Cx30, and Cx31 genes in autosomal recessive nonsyndromic hearing impairment. Acta Otolaryngol. 2008;128:1056-62 pubmed publisher
    ..Biallelic Cx26 mutations were detected in 31%. One putative mutation (c.94C>T) was found in Cx31. MLPA analysis did not reveal any additional deletion or duplication in all three Cx genes, except for the ..
  54. Nahili H, Ridal M, Boulouiz R, Abidi O, Imken L, Rouba H, et al. Absence of GJB3 and GJB6 mutations in Moroccan familial and sporadic patients with autosomal recessive non-syndromic deafness. Int J Pediatr Otorhinolaryngol. 2008;72:1633-6 pubmed publisher
    ..It has also been reported that mutations in the GJB6 and GJB3 genes contribute to autosomal recessive and autosomal dominant hearing defects in many populations...
  55. Belguith H, Tlili A, Dhouib H, Ben Rebeh I, Lahmar I, Charfeddine I, et al. Mutation in gap and tight junctions in patients with non-syndromic hearing loss. Biochem Biophys Res Commun. 2009;385:1-5 pubmed publisher
    Biallelic mutations in the GJB2, GJB3, GJB6 and CLDN14 genes have been implicated in autosomal recessive non-syndromic hearing impairment (ARNSHI). Moreover, a large number of GJB2 heterozygous patients was reported...
  56. Tang C, Chen X, Chi J, Yang D, Liu S, Liu M, et al. Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism. Hum Mol Genet. 2015;24:6054-65 pubmed publisher
    Mutations in connexin-31 (Cx31) are associated with multiple human diseases, including familial erythrokeratodermia variabilis (EKV). The pathogenic mechanism of EKV-associated Cx31 mutants remains largely elusive...
  57. Liu H, Fu X, Yu Y, Zhou G, Lu X, Tian H, et al. Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis. J Dermatol. 2012;39:400-1 pubmed publisher
  58. Yuan Y, Huang D, Yu F, Han B, Wang G, Han D, et al. [Sequence analysis of GJB3 in Chinese deafness population who carry one heterozygous GJB2 pathogenic mutation]. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2010;45:287-90 pubmed
    To investigate whether GJB3 and GJB2 interaction to produce a deafness phenotype in a digenic mode of inheritance in Chinese deafness population...
  59. Wenzel K, Manthey D, Willecke K, Grzeschik K, Traub O. Human gap junction protein connexin31: molecular cloning and expression analysis. Biochem Biophys Res Commun. 1998;248:910-5 pubmed
    We have isolated and characterized a human genomic clone containing the complete coding region of connexin31 (Cx31)...
  60. Lopez Bigas N, Rabionet R, Martinez E, Banchs I, Volpini V, Vance J, et al. Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene. Hum Mutat. 2000;15:481-2 pubmed
    Connexin31 (GJB3) has been associated with hearing impairment and erythrokeratodermia variabilis...
  61. Nielsen P, Beahm D, Giepmans B, Baruch A, Hall J, Kumar N. Molecular cloning, functional expression, and tissue distribution of a novel human gap junction-forming protein, connexin-31.9. Interaction with zona occludens protein-1. J Biol Chem. 2002;277:38272-83 pubmed
    ..9 (Cx31.9) or alpha 11 connexin. A clone in GenBank containing the Cx31.9 gene localized to chromosome 17q21.2...
  62. Mhatre A, Weld E, Lalwani A. Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment. Clin Genet. 2003;63:154-9 pubmed
    Mutations in GJB3, the gene encoding the gap junction protein Connexin 31 (CX31), have been pathogenically linked to erythrokeratodermia and non-syndromic autosomal dominant (DFNA2) or recessive hereditary hearing impairment (HHI)...
  63. Rouan F, Lo C, Fertala A, Wahl M, Jost M, Rodeck U, et al. Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro. Exp Dermatol. 2003;12:191-7 pubmed
    Recently, we identified several missense mutations of the connexin gene GJB3 encoding connexin 31 (Cx31) in erythrokeratodermia variabilis (EKV), an autosomal dominant skin disorder...
  64. Sampaio Silva J, Batissoco A, Jesus Santos R, Abath Neto O, Scarpelli L, Nishimura P, et al. Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family. Ann Hum Genet. 2018;82:23-34 pubmed publisher
    ..Ser906* (MYO6) and p.Arg42Cys (GJB3). We confirmed that this nonsense MYO6 mutation segregated with deafness in this family...
  65. Sugiura K, Arima M, Matsunaga K, Akiyama M. The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis. Br J Dermatol. 2015;173:309-11 pubmed publisher
  66. Frei K, Ramsebner R, Hamader G, Lucas T, Schoefer C, Baumgartner W, et al. Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria. Hear Res. 2004;194:81-6 pubmed
    Mutations in the gap junction protein beta 3 (GJB3) gene encoding Connexin 31 (Cx31) are known to cause autosomal inherited sensorineural deafness, erythrokeratodermia and neuropathy...
  67. Mkaouar Rebai E, Tlili A, Masmoudi S, Louhichi N, Charfeddine I, Ben Amor M, et al. Mutational analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in Tunisian patients with nonsyndromic hearing loss. Biochem Biophys Res Commun. 2006;340:1251-8 pubmed
    ..So, we have screened three nuclear genes: GJB2, GJB3, and GJB6 but we have not found correlation between the phenotypic heterogeneity and variants detected in these ..
  68. Abrams C, Freidin M, Verselis V, Bargiello T, Kelsell D, Richard G, et al. Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness. Proc Natl Acad Sci U S A. 2006;103:5213-8 pubmed
    ..Mutations in the gene for human connexin 31 (hCx31) are associated with disorders of the skin and auditory system...
  69. Coucke P, Van Camp G, Djoyodiharjo B, Smith S, Frants R, Padberg G, et al. Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. N Engl J Med. 1994;331:425-31 pubmed
    ..In some families with early-onset autosomal dominant hearing loss, the responsible gene is on chromosome 1p. ..
  70. Li T, Kuan Y, Ko T, Li C, Yang J. Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing loss. Biochem Cell Biol. 2014;92:251-7 pubmed publisher
    ..In a recent study, we have identified a missense mutation, p.V174M, in the connexin 31 encoded by the GJB3 gene, in a patient with nonsyndromic hearing loss...
  71. Wang W, Liu L, Chen G, Gao M, Zhu J, Zhou F, et al. A missense mutation in the GJB3 gene responsible for erythrokeratodermia variabilis in a Chinese family. Clin Exp Dermatol. 2012;37:919-21 pubmed publisher
  72. Rodriguez Paris J, Ballay C, Inserra M, Stidham K, Colen T, Roberson J, et al. Genetic analysis of presbycusis by arrayed primer extension. Ann Clin Lab Sci. 2008;38:352-60 pubmed
    ..primer extension (APEX) array, which contains 198 mutations across 8 hearing loss-associated genes (GJB2, GJB6, GJB3, GJA1, SLC26A4, SLC26A5, 12S-rRNA, and tRNA Ser), we compared the frequency of sequence variants in 94 individuals ..
  73. Han G, Xu Z, Li Q, Shen H, Zhang W, Liang J. Detection of hereditary hearing loss gene by DNA microarray. Eur Rev Med Pharmacol Sci. 2017;21:3538-3542 pubmed
    ..17%), 2 with mitochondrion 12SrRNA gene1555A>G site homogeneous mutation (8.33%). No GJB3 gene mutation was detected...
  74. 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
    ..Hearing Loss Arrayed Primer Extension microarray enables analysis of 198 mutations across eight genes (GJB2, GJB6, GJB3, GJA1, SLC26A4, SLC26A5, MTRNR1 and MTTS1) in a single test...
  75. Kelsell D, Wilgoss A, Richard G, Stevens H, Munro C, Leigh I. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Eur J Hum Genet. 2000;8:141-4 pubmed
    Recently, mutations in two gap junction genes, GJB2 and GJB3 (encoding Connexin 26 and Connexin 31, respectively), have been shown to underlie either inherited hearing loss and skin disease or both disorders...
  76. del Castillo F, Cohen Salmon M, Charollais A, Caille D, Lampe P, Chavrier P, et al. Consortin, a trans-Golgi network cargo receptor for the plasma membrane targeting and recycling of connexins. Hum Mol Genet. 2010;19:262-75 pubmed publisher
    ..Sequence accession numbers. GenBank: Human CNST cDNA, NM_152609; mouse Cnst cDNA, NM_146105. ..
  77. Wei S, Zhou Y, Zhang T, Huang Z, Zhang X, Zhu H, et al. Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia. Clin Exp Dermatol. 2011;36:399-405 pubmed publisher
    ..To examine the mutation status of GJB3, GJB4 and LOR in patients with PSEK and in control subjects...
  78. Pawelczyk M, Van Laer L, Fransen E, Rajkowska E, Konings A, Carlsson P, et al. Analysis of gene polymorphisms associated with K ion circulation in the inner ear of patients susceptible and resistant to noise-induced hearing loss. Ann Hum Genet. 2009;73:411-21 pubmed publisher
    ..Additionally we report significant associations in GJB1, GJB2, GJB4, KCNJ10 and KCNQ1, however due to the lack of replication in the Swedish sample set, these results should be seen as suggestive. ..
  79. Yuan Y, Dai P, Zhu X, Kang D, Zhang X, Huang D. [Etiologic analysis of severe to profound hearing loss patients from Chifeng city in Inner Mongolia]. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2009;44:292-6 pubmed
    ..Sequence analysis of the whole coding areas of GJB2, GJB3, GJB6, SLC26A4, mtDNA12SrRNA and mtDNAtRNASer(UCN) were performed...
  80. 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...
  81. Richard G, Brown N, Smith L, Terrinoni A, Melino G, MacKie R, et al. The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. Hum Genet. 2000;106:321-9 pubmed
    ..The disease maps to 1p34-p35, and recently we identified the causative gene GJB3 encoding Cx31. We have now investigated GJB3 in two families and three sporadic cases with EKV, and report three new heterozygous ..
  82. Yao G, Chen D, Wang H, Li S, Zhang J, Feng Z, et al. Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss. Acta Otolaryngol. 2013;133:833-41 pubmed publisher
    ..With the Sanger sequencing chemistry, direct sequencing was performed on entire coding regions of GJB2, GJB3, SLC26A4, and mtDNA m.C1494T and m.A1555G. Direct sequencing analysis revealed that 53 (23...
  83. Yuan Y, Huang D, Dai P, Zhu X, Yu F, Zhang X, et al. [Mutation analysis of GJB2, GJB3 and GJB6 gene in deaf population from special educational school of Chifeng city]. Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2008;22:14-7, 21 pubmed
    ..This study focused on analyzing mutations of coding sequence of GJB2, GJB3 and GJB6 gene...
  84. Li Q, Wang Q, Chi F, Li L, Zhao Y, Yuan H, et al. [The roles of connexin genes in sporadic hearing loss population]. Zhonghua Yi Xue Za Zhi. 2007;87:1097-101 pubmed
    ..PCR and sequencing of the PCR products were used to screen 3 connexin genes: GJB2, GJB3, and GJB6. The frequency of connexin gene sequence variant was 73...
  85. Yu H, Liu D, Yang J, Wu Z, Sun D, Ma W. [Analysis of common mutations of deafness-related genes in 2725 newborns]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015;32:335-8 pubmed publisher
    ..For 4 deafness-related genes GJB2, GJB3, 12S rRNA and SLC26A4, 20 common mutations were screened among 2725 newborns from Shaoxing, Zhejiang by matrix-..