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The Connexin-deafness homepage

 

Last Update: 19/09/2017

 

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  Introduction
  Connexins and deafness
     - GJB2 (Cx26)
     - GJB3 (Cx31)
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     - GJB1 (Cx32)
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     - Nonsyndromic deafness           mutations
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Abe et al 2000  Prevalent connexin 26 gene (GJB2) mutations in japanese  J Med Genet Genet  2000;11:1-3  

Abe et al 2001  Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A-->G mitochondrial mutation.  Am J Med Genet  2001, 103: 334-8  

Adato et al 2000  Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.  Eur J Hum Genet  2000, 8:437-42  

Allon-Shalev et al 2003  The variable expression of non-syndromic hearing loss associated with GBJ2 gene mutations in an isolated population.  European Human Genetics Conference 2003  European Society of Human Genetics  

Antonarakis et al 1998  Recommendations for a nomenclature system for human gene mutations  Hum Mutat  1998;11:1-3  

Antoniadi et al 1999  High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness  Clin Genet  1999, 55:381-2  

Antoniadi et al 2000  Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness.  Hum Mutat  2000, 16:7-12  

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Ben Arab et al 2000  Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates.  Clin genet  2000, 57:439-43  

Bottani et al 2003  Connexin-26 (GJB2) missense mutation in Keratitis-Ichthyosis-Deafness (KID) syndrome  European Human Genetics Conference 2003  European Society of Human Genetics  

Brobby et al 1998  Connexin 26 R143W mutation associated with recessive non-syndromic sensorineural deafness in Africa  N Engl J Med  1998, 338:8, 548-50  

Brown et al 1996  Linkage studies of non-syndromic recessive deafness (NSRD)in a family originating from the Mirpur region of Pakistan maps DFNB1 centromeric to D13S175.  Hum Mol Genet  1996, 5:169-73  

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Carrasquillo et al 1997  Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations  Hum Mol Genet  1997, 6:2163-72  

Casademont et al 2000  A simple and reliable method for the detection of the 30delG mutation of the CX26 gene  Mol Cell Probes  2000, 14:149-152  

Cohn et al 1999  Clinical studies of families with hearing loss attributable to mutations in the Connexin 26 gene (GJB2/DFNB1).  Pediatrics  1999, 103, 3:546  

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Del Castillo et al 2002  A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.  N Engl J Med.  2002, 346:243-9  

Denoyelle et al 1997  Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene  Hum Mol Genet  1997, 6:2173-7  

Denoyelle et al 1998  Connexin 26 gene linked to a dominant deafness  Nature  1998, 393:319-20  

Denoyelle et al 1999  Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling  Lancet  1999, 353:1298-303  

Dong et al 2001  Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews.  Mol Genet Metab.  2001; 73: 160-3.  

Dzhemileva et al 2003  Mutations in the GJB2 and GJB3 genes among patients with inherited nonsindromic deafness from Bashkortostan.  European Human Genetics Conference 2003  European Society of Human Genetics  

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Estivill et al 1998  Connexin-26 mutations in sporadic and inherited sensorineural deafness  Lancet  1998, 351:394-8  

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Feldmann et al 2003  Connexine 26 M34T variant is a frequent polymorphism in France  European Human Genetics Conference 2003  European Society of Human Genetics  

Feng et al.2002  An analysis of a large hereditary postlingually deaf families and detecting mutation of the deafness genes  Chin J Otorhinolaryngol  2002; Vol37, No.5, 348-351  

Fialho et al 2003  A novel M163L mutation in GJB2 gene associated with autosomal dominant isolated hearing loss  European Human Genetics Conference 2003  European Society of Human Genetics  

Frei et al. 2002  Connexin 26 mutations in cases of sensorineural deafness in eastern Austria  Eur J Hum Genet  2002 Jul;10(7):427-32  

Fuse et al 1999  Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness  NeuroReport  1999, 10:1853-1857  

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Gabriel et al 2001  Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population.  Hum Mutat.  2001; 17: 521-2.  

Gabriel et al, 2001  Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population  Hum Mutat  2001, 17(6):521-2  

Gasparini et al 1997  Linkage of DFNB1 to non-syndromic neurosensory autosomal-recessive deafness in Mediterranean families  Eur J Hum Genet  1997, 5:83-8  

Gasparini et al 2000  High carrier frequency of the 35delG deafness mutation in European populations  Eur J Hum Genet  2000, 8:19-23  

Green et al 1999  Carrier rates in the midwestern united states for GJB2 mutations causing inherited deafness  JAMA  1999, 281: 2211-16  

Grifa et al 1999  Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus  Nature Genet  1999, 23:16-8  

Griffith et al 2000  Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT  Am J Hum Genet  2000, 67:745-9.  

Guilford et al 1994  A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q  Nat Genet  1994, 6: 24-8.  

Guilford et al 1995  A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C)  Genomics  1995, 29:163-9  

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Hamelmann et al 2001  Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.  Hum Mutat.  2001; 18: 84-5.  

Heathcote et al 2000  A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis  J Med Genet  2000, 37:50-51  

Houseman et al 2001  Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.  J Med Genet  2001, 38:20-25  

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Iliades et al. 2002  Prelingual Nonsyndromic Hearing Loss in Greece. molecular and clinical findings  ORL J Otorhinolaryngol Relat Spec  2002 ;64(5):321-3  

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Jun et al 2000  Temporal bone histopathology in Connexin 26 related hearing loss  Laryngoscope  2000, 110: 269-75  

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Kelley et al 1998  Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.  Am J Hum Genet  1998, 62:792-9  

Kelley et al 1999  Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12.  Genomics  1999, 62:172-6  

Kelley et al, 1999  Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12  Genomics  1999, 1;62(2):172-6  

Kelsell et al 1997  Connexin 26 mutations in hereditary non-syndromic sensorineural deafness  Nature  1997, 387:80-3  

Kelsell et al 2000  Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family  Eur J Hum Genet  2000, 8:141-144  

Kenna et al 2001  Connexin 26 Studies in Patients With Sensorineural Hearing Loss.  Arch Otolaryngol Head Neck Surg.  2001; 127: 1037-1042.  

Kikuchi et al 1995  Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis  Anat Embryol  1995, 191:2, 101-18  

Kudo et al 2000  Novel mutations in the Connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population  Am J Med Genet  2000, 90:141-145  

Kupka et al 2002  Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment  Hum Mutat  2002;20(1):77-8.  

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Lamartine et al 2000  Mutations in GJB6 cause hidrotic ectodermal dysplasia  Nat Genet  2000, 26:142-4  

Lamartine et al, 2000  Mutations in GJB6 cause hidrotic ectodermal dysplasia  Nat Genet  2000, 26(2):142-4  

Lefebvre et al 2000  Connexins, hearing and deafness: clinical aspects of mutations in the connexin 26 gene  Brain Res Brain Res Rev  2000, 32:159-62.  

Lench et al 1998a  A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).  J Med Genet  1998, 35:151-2  

Lench et al 1998b  Connexin-26 mutations in sporadic non-syndromal sensorineural deafness  Lancet  1998, 351:415  

Lerer et al 2000  Contribution of connexin 26 mutations to nonsyndromic deafness in ashkenazi patients and the variable phenotypic effect of the mutation 167delT.  Am J Med Genet  2000, 95:53-6  

Lerer et al 2001  A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: a novel founder mutation in Ashkenazi Jews.  Hum Mutat  2001;  

Lin et al 2001  Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).  Hum Mutat.  2001; 18: 42-51.  

Liu et al 2000  Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss  Hum Mol Genet  2000, 9:63-7  

Liu et al 2001  Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness.  Hum Mol Genet  2001, 10: 2945-51  

Loffler et al, 2001  Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.  Eur J Hum Genet.  2001; 9:226-30.  

Lopez-Bigas et al 2000  Identification of seven novel SNPs (five nucleotide and two aminoacid substitutions) in the Connexin31 (GJB3) gene  Hum Mut  2000, 15:481-2  

Lopez-Bigas et al 2001  Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.  Hum Mol Genet  2001; 10:947-52.  

Lucotte et al 2001  PCR test for diagnosis of the common GJB2 (connexin 26) 35delG mutation on dried blood spots and determination of the carrier frequency in France.  Mol Cell Probes  2001, 15:57-59  

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Maestrini et al 1999  A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families  Hum Mol Genet  1999, 8:1237-43  

Marlin et al 2001  Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.  Arch Otolaryngol Head Neck Surg.  2001; 127:927-33.  

Maw et al 1995  The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population  Am J Hum Genet  1995, 57:629-35  

McGuirt et al 1999  Connexin 26 as a cause of hereditary hearing loss.  Am J Audiol  1999, 8:93-100  

Mhatre et al 2003  Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment  Clin Genet  2003;63(2):154-9  

Mignon et al 1996  Assignment of connexin 26 (GJB2) and 46 (GJA3) genes to human chromosome 13q11-->q12 and mouse chromosome 14D1-E1 by in situ hybridization  Cytogenet Cell Genet  1996, 72:185-6  

Minarik et al 2003  Most frequent GJB2 mutations among Slovak Caucasian and Slovak Gypsy patients with non-syndromic hearing loss (NSHL)  European Human Genetics Conference 2003  European Society of Human Genetics  

Mohseni et al 2003  Mutations of connexin 26 in Iranian population with autosomal recessive sensorineural hearing loss (SNHL)  European Human Genetics Conference 2003  European Society of Human Genetics  

Morell et al 1998  Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness  N Engl J Med  1998, 339:1500-5  

Morle et al 2000  A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss  J Med Genet  2000, 37:368-70  

Mueller et al 1999  Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations--molecular and audiological findings  Int J Pediatr Otorhinolaryngol  1999, 50:3-13  

Murgia et al 1999  Cx26 deafness: mutation analysis and clinical variability.  J Med Genet  1999, 36:829-832  

Mustapha et al 2001  Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two  J Med Genet  2001; 38: E36.  

Mustapha et al 2001  Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation  J Med Genet  2001, 38:E36  

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Nance et al  Relation between choice of partner and high frequency of connexin-26 deafness  Lancet  2000, 356:500-1.  

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Oliveira et al. 2002  Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patients  Clin Genet  2002;61(5):354-8  

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Pampanos et al. 2002  Prevalence of GJB2 mutations in prelingual deafness in the Greek population  Int J Pediatr Otorhinolaryngol  2002 Sep 2;65(2):101-8  

Park et al 2000  Connexin26 mutations associated with nonsyndromic hearing loss.  Laryngoscope  2000, 110:1535-8  

Prasad et al 2000  Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).  Hum Mutat  2000, 16:502-8  

Primigniani et al 2003  Neurosensory Non Syndromic Deafness: Analysis Of Connexins 26 And 30 In Italian Population  European Human Genetics Conference 2003  European Society of Human Genetics  

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Rabionet et al 2000a  Molecular basis of childhood deafness due to mutations in GJB2 (Connexin26) gene  Hum Genet  2000, 106:40-44  

Rabionet et al 2000b  Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins  Hum Mutat  2000, 16:190-202  

Richard et al 1998a  Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma  Hum Genet  1998, 103:393-9  

Richard et al 1998b  Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis  Nature Genet  1998, 20:366-9  

Richard et al 2000  Connexins: a connection with the skin  Exp Dermatol  2000, 9:77-96  

Richard et al 2001  The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3  Hum Genet  2001, 106(3):321-9  

Richard et al. 2002  Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.  Am J Hum Genet  2002, 70(5):1341-8  

Rickard et al 2001  Recurrent mutations in the deafness gene GJB2 (connexin 26) in British Asian families.  J Med Genet.  2001; 38: 530-3.  

Rouan et al 2001  trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidemrmal differentiation  Journal of Cell Science  2001, 114: 2105-2113  

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Sartorato et al 2000  Determination of the frequency of the 35delG allele in Brazilian neonates.  Clin Genet  2000; 58:339-40  

Scott et al 1998a  Connexin mutations and hearing loss  Nature  1998, 391:32  

Scott et al 1998b  Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss  Hum Mutat  1998, 11:5, 387-94  

Simsek et al 2001  Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population  Hum Mutat  2001, 18: 545-6.  

Smith et al. 2002  A novel connexin 30 mutation in Clouston Syndrome  J Invest Dermatol  2002;118(3):530-2  

Sobe et al 1999  High frequency of the deafness-associated 167delT mutation in the connexin 26 (GJB2) gene in Israeli Ashkenazim  Am J Med Genet  1999, 86:499-500.  

Sobe et al 2000  The prevalence and expression of inherited connexin26 mutations associated with non-syndromic hearing loss in the Israeli population  Hum Genet  2000, 106:50-57  

Storm et al 1999  Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method.  Hum Mutat  1999, 14:263-6  

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Tekin et al 2003  Spectrum of GJB2 mutations amongTurkish individuals with prelingual onset sensorineural hearing loss  European Human Genetics Conference 2003  European Society of Human Genetics  

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Uyguner et al 2003  Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss  Clin Genet  2003 Jul;64(1):65-69  

Uyguner et al. 2002  The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family  Clin Genet  2002 Oct;62(4):306-9  

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Van Laer et al 2001  A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.  J Med Genet.  2001; 38:515-8.  

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Wang et al. 2002  Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan.  Eur J Hum Genet  2002;10(8):495-8  

White et al 1998  Connexin mutations in deafness  Nature  1998, 394, 630-1  

Wilcox et al 1999  Connexin26 deafness in several interconnected families  J Med Genet  1999, 36:383-5.  

Wilcox et al 2000  High frequency hearing loss correlated with mutations in the GJB2 gene.  Hum Genet  2000, 106:399-405  

Wilcox et al 2000b  A simple PCR test to detect the common 35delG mutation in the connexin 26 gene.  Mol diagn  2000, 5:75-8  

Willecke et al 1990  Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment  Eur J Cell Biol  1990, 53:275-80  

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Xia et al 1998  Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment  Nature Genet  1998, 20:370-3  

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Yuge et al. 2002  Identification of 605ins46, a novel GJB2 mutation in a Japanese family  Auris Nasus Larynx  2002;29(4):379-82  

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Zelante et al 1997  Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans  Hum Mol Genet  1997, 6:1605-9