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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
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
Mutational analysis of the SLC26A4 gene in Chinese sporadic nonsyndromic hearing-impaired children.
Hu X, Liang F, Zhao M, Gong A, Berry ER, Shi Y, Wang Y, Chen Y, Liu A, Qu C
Int J Pediatr Otorhinolaryngol 2012 Oct;76(10):1474-80. Epub 2012 Jul 15 doi: 10.1016/j.ijporl.2012.06.027. PMID: 22796198
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
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
Rapid umbilical cord diagnostic of hereditary profound hearing loss: how we do it.
Birkenhäger R, Maier W, Kunze M, Aschendorff A, Arndt S
Clin Otolaryngol 2009 Aug;34(4):374-6. doi: 10.1111/j.1749-4486.2009.01958.x. PMID: 19673989
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
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
Dominant modifier DFNM1 suppresses recessive deafness DFNB26.
Riazuddin S, Castelein CM, Ahmed ZM, Lalwani AK, Mastroianni MA, Naz S, Smith TN, Liburd NA, Friedman TB, Griffith AJ, Riazuddin S, Wilcox ER
Nat Genet 2000 Dec;26(4):431-4. doi: 10.1038/82558. PMID: 11101839
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

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