Mutation in gap and tight junctions in patients with non-syndromic hearing loss

Belguith, Hanen; Tlili, Abdelaziz; Dhouib, H.; Rebeh, Imen Ben; Lahmar, Imed; Charfeddine, Ilhem; Driss, Nabil; Ghorbel, Abdelmonem; Ayadi, Hammadi; Masmoudi, Saber

doi:10.1016/j.bbrc.2009.02.125

Cited by 16 publications

(5 citation statements)

References 29 publications

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“…Some preservation of low frequency hearing with a greater degree of high frequency hearing loss may indicate involvement of CLDN14 in deafness, a finding similar to the hearing loss associated with mutant alleles of GJB2 6. Although CLDN14 is not a contributor to profound deafness in Turkey, Tunis and Spain,7–9 it is possible that some cases of less severe hearing loss in these and other countries could be attributed to CLDN14 mutations.…”

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confidence: 87%

Mutations in CLDN14 are associated with different hearing thresholds

2010

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Mutations in CLDN14, encoding tight junction protein claudin 14, cause profound deafness in mice and humans. We identified a Pakistani family, in which the affected individuals were homozygous for a known pathogenic mutation c.254 T>A resulting in p.V85D substitution in CLDN14; however, in contrast to the previously reported families with mutations in CLDN14, most of the affected individuals in this family exhibit only a severe hearing loss. In order to identify the contribution of CLDN14 to less than profound deafness, we screened for mutations of CLDN14 in 30 multiplex and 57 sporadic cases with moderately severe to severe hearing loss from Pakistan. We identified one other affected individual homozygous for p.V85D substitution. Comparison of audiometric data from all patients indicates that mutations in CLND14 cause varying degrees of hearing loss, which may be enhanced at high frequencies. This suggests that a modifier can reduce the severity of hearing loss associated with mutations of CLDN14. Our data indicates that mutations in CLDN14 should be explored when considering the etiology of less severe hearing loss.

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confidence: 87%

Mutations in CLDN14 are associated with different hearing thresholds

2010

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“…Variants of CLDN14 have been previously associated with hearing loss in Canada, Pakistan, India and Morocco (Wilcox et al, 2001; Bashir et al, 2010; Lee et al, 2012; Bashir et al, 2013; Charif et al, 2013; Pandey et al, 2017; Pater et al, 2017) ( Supplementary Table 3 ). In addition, some studies showed the absence of variants in the CLDN14 gene for other populations such as Tunisia, Turkey and China (Uyguner et al, 2003; Belguith et al, 2009; Lu et al, 2018).…”

Section: Discussionmentioning

confidence: 99%

A Novel Nonsense Mutation (c.414G>A; p.Trp138*) in CLDN14 Causes Hearing Loss in Yemeni Families: A Case Report

et al. 2019

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Non-syndromic hearing loss (NSHL) is a hereditary disorder that affects many populations. Many genes are involved in NSHL and the mutational load of these genes often differs among ethnic groups. Claudin-14 (CLDN14), a tight junction protein, is known to be associated with NSHL in many populations. In this study, we aimed to identify the responsible variants in 3 different Yemeni families affected with NSHL. Firstly, clinical exome sequencing (CES) performed for 3 affected patients from these different families identified a new nonsense variant (c.414G > A) in CLDN14. This variant was then confirmed by Sanger sequencing and PCR-RFLP. Subsequently, four microsatellite markers were used to genotype these families, which revealed a founder effect for this variant. Overall, this study illustrates the implication of the CLDN14 gene in the Yemeni population with NSHL and identifies a new founder variant.

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“…[202324] The c.11C>T mutation modifies a conserved residue between the claudins 9, 10, 11 and 18 genes. [20] p.T4M protein (O95500) showed a diffuse cytoplasmic localization.…”

Section: Discussionmentioning

confidence: 99%

“…The c.11C>T mutation was found in 8 homozygous families presenting severe to profound NSHl and two heterozygous families. [23]…”

Section: Discussionmentioning

confidence: 99%

Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss

Charif¹,

Boulouiz²,

Bakhechane³

et al. 2013

Indian J Hum Genet

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BACKGROUND:Hearing loss is the most prevalent human genetic sensorineural defect. Mutations in the CLDN14 gene, encoding the tight junction claudin 14 protein expressed in the inner ear, have been shown to cause non-syndromic recessive hearing loss DFNB29.AIM:We describe a Moroccan SF7 family with non-syndromic hearing loss. We performed linkage analysis in this family and sequencing to identify the mutation causing deafness.MATERIALS AND METHODS:Genetic linkage analysis, suggested the involvement of CLDN14 and KCNE1 gene in deafness in this family. Mutation screening was performed using direct sequencing of the CLDN14 and KCNE1 coding exon gene.RESULTS:Our results show the presence of c.11C>T mutation in the CLDN14 gene. Transmission analysis of this mutation in the family showed that the three affected individuals are homozygous, whereas parents and three healthy individuals are heterozygous. This mutation induces a substitution of threonine to methionine at position 4.CONCLUSION:These data show that CLDN14 gene can be i mplicated in the development of hearing loss in SF7 family; however, the pathogenicity of c.11C>T mutation remains to be determined.

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Mutation in gap and tight junctions in patients with non-syndromic hearing loss

Cited by 16 publications

References 29 publications

Mutations in CLDN14 are associated with different hearing thresholds

Mutations in CLDN14 are associated with different hearing thresholds

A Novel Nonsense Mutation (c.414G>A; p.Trp138*) in CLDN14 Causes Hearing Loss in Yemeni Families: A Case Report

Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss

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