Genetic analysis of CLDN14 in the Chinese population affected with non-syndromic hearing loss

Lu, Yajie; Yao, Jun; Wei, Qinjun; Xu, Juan; Xing, Guangqian; Cao, Xin

doi:10.1016/j.ijporl.2017.11.016

Cited by 8 publications

(7 citation statements)

References 31 publications

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“…Since the identification of CLDN14 variants in families with ARNSHL (Wilcox et al, 2001), several genetic and functional studies have been performed. These studies confirmed the implication of the CLDN14 gene in hearing loss (Lu et al, 2018).…”

Section: Introductionsupporting

confidence: 78%

“…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%

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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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Section: Introductionsupporting

confidence: 78%

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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“…Among them, seven were reported from Pakistan, and one each from Greece and Canada. Otherwise, according to the previous reports, no pathogenic variants of CLDN14 have been detected in the Korean and Chinese populations [30,31]. Hence, this is the first report of a causative CLDN14 variant in an east Asian population.…”

Section: Discussionmentioning

confidence: 63%

“…Seven of the nine variants were reported from Pakistani consanguineous families. The CLDN14 variants are a relatively common cause of recessive hearing loss, which is responsible for 2.25% of HL patients in a Pakistani study cohort [28], whereas no pathogenic variants were reported from east Asian populations [30,31]. Although previously reported papers have shown some clinical characteristics of patients with CLDN14 variants, the audiovestibular findings, such as progression and details of vestibular function, remain unclear.…”

Section: Introductionmentioning

confidence: 99%

Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant

Kitano

Nishio

Usami

2019

IJMS

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Tight junctions are cellular junctions that play a major role in the epithelial barrier function. In the inner ear, claudins, occludin, tricellulin, and angulins form the bicellular or tricellular binding of membrane proteins. In these, one type of claudin gene, CLDN14, was reported to be responsible for human hereditary hearing loss, DFNB29. Until now, nine pathogenic variants have been reported, and most phenotypic features remain unclear. In the present study, genetic screening for 68 previously reported deafness causative genes was carried out to identify CLDN14 variants in a large series of Japanese hearing loss patients, and to clarify the prevalence and clinical characteristics of DFNB29 in the Japanese population. One patient had a homozygous novel variant (c.241C>T: p.Arg81Cys) (0.04%: 1/2549). The patient showed progressive bilateral hearing loss, with post-lingual onset. Pure-tone audiograms indicated a high-frequency hearing loss type, and the deterioration gradually spread to other frequencies. The patient showed normal vestibular function. Cochlear implantation improved the patient’s sound field threshold levels, but not speech discrimination scores. This report indicated that claudin-14 is essential for maintaining the inner ear environment and suggested the possible phenotypic expansion of DFNB29. This is the first report of a patient with a tight junction variant receiving a cochlear implantation.

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“…While, blue light downregulated the level of CHRNB2, that can be a reason of suppression of cell proliferation. SPI1 encodes a kind of transcription factor while CLDN14 encodes Claudin-14, which plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity [28] .…”

Section: Author Manuscriptmentioning

confidence: 99%

RNA‐Seq analysis revealed the molecular mechanisms of photobiomodulation effect on human fibroblasts

et al. 2020

Photoderm Photoimm Photomed

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Genetic analysis of CLDN14 in the Chinese population affected with non-syndromic hearing loss

Cited by 8 publications

References 31 publications

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

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

Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant

RNA‐Seq analysis revealed the molecular mechanisms of photobiomodulation effect on human fibroblasts

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