U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Deafness due to Connexin 26 Gene Anomaly

MedGen UID:
1793876
•Concept ID:
C5557435
•
Disease or Syndrome

Definition

Congenital deafness caused by mutations in the gene GJB2 (deafness gene). [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeafness due to Connexin 26 Gene Anomaly

Professional guidelines

PubMed

Analysis between phenotypes and genotypes of inner ear malformation.
Wang S, Ding W, Chen C, Xu B, Liu X, Bian P, Guo Y
Acta Otolaryngol 2019 Mar;139(3):223-232. Epub 2019 Feb 14 doi: 10.1080/00016489.2018.1554262. PMID: 30762457
Government-funded universal newborn hearing screening and genetic analyses of deafness predisposing genes in Taiwan.
Chu CW, Chen YJ, Lee YH, Jaung SJ, Lee FP, Huang HM
Int J Pediatr Otorhinolaryngol 2015 Apr;79(4):584-90. Epub 2015 Feb 7 doi: 10.1016/j.ijporl.2015.01.033. PMID: 25724631
Deafness on the island of Providencia - Colombia: different etiology, different genetic counseling.
Lattig MC, Gelvez N, Plaza SL, Tamayo G, Uribe JI, Salvatierra I, Bernal JE, Tamayo ML
Genet Couns 2008;19(4):403-12. PMID: 19239084

Recent clinical studies

Etiology

Congenital Middle Ear Malformation with Common Deafness Gene Mutation Analysis: A Review of 813 Profound Sensorineural Hearing Loss Child Patients.
Dong Y, He X, Wu W, Yang S, Peng A, Xiao Z, Liu Y, Gao S, Tan D, Liu XZ, Xie D
Anat Rec (Hoboken) 2020 Mar;303(3):594-599. Epub 2019 Dec 26 doi: 10.1002/ar.24330. PMID: 31876389
Government-funded universal newborn hearing screening and genetic analyses of deafness predisposing genes in Taiwan.
Chu CW, Chen YJ, Lee YH, Jaung SJ, Lee FP, Huang HM
Int J Pediatr Otorhinolaryngol 2015 Apr;79(4):584-90. Epub 2015 Feb 7 doi: 10.1016/j.ijporl.2015.01.033. PMID: 25724631
Etiological approach in patients with unidentified hearing loss.
Deklerck AN, Acke FR, Janssens S, De Leenheer EM
Int J Pediatr Otorhinolaryngol 2015 Feb;79(2):216-22. Epub 2014 Dec 16 doi: 10.1016/j.ijporl.2014.12.012. PMID: 25555640
Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.
Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, Man SY, Bodemer C, Prins C, Antille C, Saurat JH, Atherton D, Harper JI, Kelsell DP, Hovnanian A
Br J Dermatol 2007 May;156(5):1015-9. Epub 2007 Mar 23 doi: 10.1111/j.1365-2133.2007.07806.x. PMID: 17381453
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.
Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabédian EN, Petit C
Lancet 1999 Apr 17;353(9161):1298-303. doi: 10.1016/S0140-6736(98)11071-1. PMID: 10218527

Diagnosis

Analysis between phenotypes and genotypes of inner ear malformation.
Wang S, Ding W, Chen C, Xu B, Liu X, Bian P, Guo Y
Acta Otolaryngol 2019 Mar;139(3):223-232. Epub 2019 Feb 14 doi: 10.1080/00016489.2018.1554262. PMID: 30762457
Government-funded universal newborn hearing screening and genetic analyses of deafness predisposing genes in Taiwan.
Chu CW, Chen YJ, Lee YH, Jaung SJ, Lee FP, Huang HM
Int J Pediatr Otorhinolaryngol 2015 Apr;79(4):584-90. Epub 2015 Feb 7 doi: 10.1016/j.ijporl.2015.01.033. PMID: 25724631
Etiological approach in patients with unidentified hearing loss.
Deklerck AN, Acke FR, Janssens S, De Leenheer EM
Int J Pediatr Otorhinolaryngol 2015 Feb;79(2):216-22. Epub 2014 Dec 16 doi: 10.1016/j.ijporl.2014.12.012. PMID: 25555640
Novel mutations in the SLC26A4 gene.
Busi M, Castiglione A, Taddei Masieri M, Ravani A, Guaran V, Astolfi L, Trevisi P, Ferlini A, Martini A
Int J Pediatr Otorhinolaryngol 2012 Sep;76(9):1249-54. Epub 2012 Jun 18 doi: 10.1016/j.ijporl.2012.05.014. PMID: 22717225
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.
Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabédian EN, Petit C
Lancet 1999 Apr 17;353(9161):1298-303. doi: 10.1016/S0140-6736(98)11071-1. PMID: 10218527

Therapy

A new variant of Vohwinkel syndrome: a case report.
Seirafi H, Khezri S, Morowati S, Kamyabhesari K, Mirzaeipour M, Khezri F
Dermatol Online J 2011 Mar 15;17(3):3. PMID: 21426869
Temporal bone imaging in GJB2 deafness.
Propst EJ, Blaser S, Stockley TL, Harrison RV, Gordon KA, Papsin BC
Laryngoscope 2006 Dec;116(12):2178-86. doi: 10.1097/01.mlg.0000244389.68568.a7. PMID: 17146393
Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome.
Messmer EM, Kenyon KR, Rittinger O, Janecke AR, Kampik A
Ophthalmology 2005 Feb;112(2):e1-6. doi: 10.1016/j.ophtha.2004.07.034. PMID: 15691545

Prognosis

Waardenburg syndrome type 2: an orthodontic perspective.
Şuhani RD, Şuhani MF, Muntean A, Mesaroş MF, Badea ME
Rom J Morphol Embryol 2015;56(2 Suppl):879-83. PMID: 26429191
A novel dominant and a de novo mutation in the GJB2 gene (connexin-26) cause keratitis-ichthyosis-deafness syndrome: implication for cochlear implantation.
Arndt S, Aschendorff A, Schild C, Beck R, Maier W, Laszig R, Birkenhäger R
Otol Neurotol 2010 Feb;31(2):210-5. doi: 10.1097/MAO.0b013e3181cc09cd. PMID: 20101161
Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity.
Angeli SI
Laryngoscope 2008 Nov;118(11):2014-23. doi: 10.1097/MLG.0b013e31817fb7ad. PMID: 18758381
Molecular genetics of hearing loss.
Petit C, Levilliers J, Hardelin JP
Annu Rev Genet 2001;35:589-646. doi: 10.1146/annurev.genet.35.102401.091224. PMID: 11700295
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.
Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabédian EN, Petit C
Lancet 1999 Apr 17;353(9161):1298-303. doi: 10.1016/S0140-6736(98)11071-1. PMID: 10218527

Clinical prediction guides

Assembly of the cochlear gap junction macromolecular complex requires connexin 26.
Kamiya K, Yum SW, Kurebayashi N, Muraki M, Ogawa K, Karasawa K, Miwa A, Guo X, Gotoh S, Sugitani Y, Yamanaka H, Ito-Kawashima S, Iizuka T, Sakurai T, Noda T, Minowa O, Ikeda K
J Clin Invest 2014 Apr;124(4):1598-607. Epub 2014 Mar 3 doi: 10.1172/JCI67621. PMID: 24590285Free PMC Article
Ultrastructural pathological changes in the cochlear cells of connexin 26 conditional knockout mice.
Lin L, Wang YF, Wang SY, Liu SF, Yu Z, Xi L, Li HW
Mol Med Rep 2013 Oct;8(4):1029-36. Epub 2013 Aug 5 doi: 10.3892/mmr.2013.1614. PMID: 23917463Free PMC Article
Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation.
Chen K, Wang X, Sun L, Jiang H
Otolaryngol Head Neck Surg 2012 Jun;146(6):972-8. Epub 2012 Mar 12 doi: 10.1177/0194599812439670. PMID: 22412181
Molecular genetics of hearing loss.
Petit C, Levilliers J, Hardelin JP
Annu Rev Genet 2001;35:589-646. doi: 10.1146/annurev.genet.35.102401.091224. PMID: 11700295
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.
Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabédian EN, Petit C
Lancet 1999 Apr 17;353(9161):1298-303. doi: 10.1016/S0140-6736(98)11071-1. PMID: 10218527

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...