Connexin 26 and Connexin 30 Mutations in Children with Nonsyndromic Hearing Loss

Spectrum and Frequency of the GJB2 Gene Mutations Among Latvian Patients with Prelingual Nonsyndromic Hearing Loss Mutations in the GJB2 gene (connexin 26) are the most common cause of congenital nonsyndromic severe-to-profound hearing loss. Sixty-five hearing impaired probands from Latvia were tested for mutations in the GJB2 gene to determine the percentage of hearing loss attributed to connexin 26 and the types of mutations in this population. A total of 62% of patients tested had GJB2 mutations. Four different mutations in the GJB2 gene were identified in Latvian patients with nonsyndromic sensorineural hearing loss: 35delG, 311-324del14, 235delC and M34T. The most prevalent mutation is 35delG (47% of all probands were homozygous and 8% compound heterozygous). Our findings support the conclusion that the 35delG mutation is the most prevalent GJB2 mutation and that it is the common cause of hereditary nonsyndromic hearing loss in populations of European descent.

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Human Connexin 30 (GJB6), a Candidate Gene for Nonsyndromic Hearing Loss: Molecular Cloning, Tissue-Specific Expression, and Assignment to Chromosome 13q12

Genomics ◽

10.1006/geno.1999.6002 ◽

1999 ◽

Vol 62 (2) ◽

pp. 172-176 ◽

Cited By ~ 40

Author(s):

Philip M. Kelley ◽

Satoko Abe ◽

James W. Askew ◽

Shelley D. Smith ◽

Shin-ichi Usami ◽

...

Keyword(s):

Hearing Loss ◽

Candidate Gene ◽

Molecular Cloning ◽

Nonsyndromic Hearing Loss ◽

Specific Expression ◽

Tissue Specific ◽

Tissue Specific Expression ◽

Connexin 30

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Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey

The Journal of Laryngology & Otology ◽

10.1017/s0022215112002587 ◽

2012 ◽

Vol 127 (1) ◽

pp. 33-37 ◽

Cited By ~ 8

Author(s):

Ö Tarkan ◽

P Sari ◽

O Demirhan ◽

M Kiroğlu ◽

Ü Tuncer ◽

...

Keyword(s):

Hearing Loss ◽

Cochlear Implantation ◽

Autosomal Recessive ◽

Connexin 26 ◽

Enzyme Linked Immunosorbent Assay ◽

Paediatric Patients ◽

Study Population ◽

Connexin 30 ◽

Syndromic Hearing Loss ◽

35Delg Mutation

AbstractObjective:Mutations in the genes for connexin 26 (GJB2) and connexin 30 (GJB6) play an important role in autosomal recessive, non-syndromic hearing loss. This study aimed to detect the 35delG and 167delT mutations of theGJB2gene and the del(GJB6-D13S1830) mutation of theGJB6gene in paediatric patients diagnosed with congenital, non-syndromic hearing loss and treated with cochlear implantation in Mediterranean Turkey.Materials and method:We included 94 children diagnosed with congenital, non-syndromic hearing loss and treated with cochlear implantation. Blood samples were collected, DNA extracted and an enzyme-linked immunosorbent assay performed to enable molecular diagnosis of mutations.Results:Of the 94 children analysed, the 35delG mutation was detected in 12 (12.7 per cent): 10 (83.3 per cent) were homozygous and 2 (16.7 per cent) heterozygous mutant. The 167delT and del(GJB6-D13S1830) mutations were not detected.Conclusion:The GJB2-35delG mutation is a major cause of congenital, non-syndromic hearing loss in this study population.

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Screening of Connexin 26 in Nonsyndromic Hearing Loss

International Archives of Otorhinolaryngology ◽

10.1055/s-0034-1373783 ◽

2014 ◽

Vol 19 (01) ◽

pp. 030-033 ◽

Cited By ~ 4

Author(s):

Danielle Moreira ◽

Priscila Lopez ◽

Jair Mantovani ◽

Daniela Silva

Keyword(s):

Hearing Loss ◽

Connexin 26 ◽

Nonsyndromic Hearing Loss

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Spectrum and frequency of connexin 26 & connexin 30 gene mutations in patients with congenital hearing loss from Ladakh India

Meta Gene ◽

10.1016/j.mgene.2021.100960 ◽

2021 ◽

pp. 100960

Author(s):

Mohd Murtaza ◽

Mahrukh Hameed Zargar ◽

Oliyat Ali ◽

Ishfaq Shafi Khan ◽

Md Niamat Ali

Keyword(s):

Hearing Loss ◽

Gene Mutations ◽

Connexin 26 ◽

Congenital Hearing Loss ◽

Connexin 30

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Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss

Clinical Genetics ◽

10.1111/j.1399-0004.2005.00468.x ◽

2005 ◽

Vol 68 (2) ◽

pp. 161-166 ◽

Cited By ~ 29

Author(s):

V Piazza ◽

M Beltramello ◽

M Menniti ◽

E Colao ◽

P Malatesta ◽

...

Keyword(s):

Functional Analysis ◽

Hearing Loss ◽

Connexin 26 ◽

Nonsyndromic Hearing Loss ◽

Gene Coding

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The Functional Role of CONNEXIN 26 Mutation in Nonsyndromic Hearing Loss, Demonstrated by Zebrafish Connexin 30.3 Homologue Model

Cells ◽

10.3390/cells9051291 ◽

2020 ◽

Vol 9 (5) ◽

pp. 1291

Author(s):

Hsuan-An Su ◽

Ting-Wei Lai ◽

Shuan-Yow Li ◽

Tzu-Rong Su ◽

Jiann-Jou Yang ◽

...

Keyword(s):

Hearing Loss ◽

Structural Changes ◽

Dominant Negative ◽

Gjb2 Gene ◽

Dominant Negative Effect ◽

Connexin 26 ◽

Transgenic Zebrafish ◽

Nonsyndromic Hearing Loss ◽

Transgenic Lines

Nonsyndromic hearing loss (NSHL) is of great clinical importance, and mutations in the GJB2 gene and the encoded human CONNEXIN 26 (CX26) protein play important roles in the genetic pathogenesis. The CX26 p.R184Q mutation was shown to be a dominant-negative effect in our previous study. Previously, we also demonstrated that zebrafish Cx30.3 is orthologous to human CX26. In the present study, we established transgenic zebrafish models with mutated Cx30.3 specifically expressed in the supporting cells of zebrafish inner ears driven by the agr2 promoter, to demonstrate and understand the mechanism by which the human CX26 R.184 mutation causes NSHL. Our results indicated that significant structural changes in the inner ears of transgenic lines with mutations were measured and compared to wild-type zebrafish. Simultaneously, significant alterations of transgenic lines with mutations in swimming behavior were analyzed with the zebrafish behavioral assay. This is the first study to investigate the functional results of the CX26 p.R184Q mutation with in vivo disease models. Our work supports and confirms the pathogenic role of the CX26 p.R184Q mutation in NSHL, with a hypothesized mechanism of altered interaction among amino acids in the connexins.

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