Frequencies of gap‐ and tight‐junction mutations in Turkish families with autosomal‐recessive non‐syndromic hearing loss

Uyguner, Zehra Oya; Emiroglu, M; Üzümcü, Abdullah; Hafız, Günter; Ghanbari, Asadollah; Başerer, Nermin; Yüksel‐Apak, Memnune; Wollnik, Bernd

doi:10.1034/j.1399-0004.2003.00101.x

Cited by 87 publications

(69 citation statements)

References 34 publications

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“…Aspartic acid is predicted to disrupt the hydrophobicity of the region, as well as the predicted α and β regions in transmembrane domain 2 (Kyte and Doolittle, 1982). The prevalence of these mutations in different populations is not universal; for example, no disease-associated mutations in claudin-14 have been found in Turkish patients with deafness (Uyguner et al, 2003). Nevertheless, recently, Ben-Yosef et al reported that claudin-14-null mice have a normal endocochlear potential but are deaf owing to rapid degeneration of cochlear outer hair cells, followed by slower degeneration of the inner hair cells (Ben-Yosef et al, 2003), which supports a role of claudin-14 in hearing.…”

Section: Claudin Genes and Claudin Gene Expressionmentioning

confidence: 99%

Barriers built on claudins

Turksen¹,

Troy²

2004

Journal of Cell Science

362

288

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We wish to correct some errors that we inadvertently introduced in revising and editing our recent Commentary. In the text, we incorrectly cited (Wolburg et al., 2003) in reference to the downregulation of claudin-23 in gastric cancer; the reference should be (Katoh and Katoh, 2003) as correctly cited in Table 3. (Peacock et al., 1997) was mistakenly inserted in relation to the discussion of the number of claudin genes. We also wrote the number of human claudin genes as 24, the number currently ascribed to the mouse claudin genes (GenBank). The correct number ascribed to human claudin genes by (Katoh and Katoh, 2003) is 23, up from the originally predicted 20 (Venter et al., 2001). In this regard, it is worth noting that, since our Commentary was published, (Loh et al., 2004) have annotated the claudins in the teleost Fugu rubripes genome and reported 56 claudin genes, of which only 35 can be assigned orthology to 17 mammalian claudin genes, with the remaining 21 being specific to the fish lineage and most of the 56 expressed in a more or less tissue-specific fashion, or at particular developmental stages. This, along with other issues we raised, suggests that additional annotation of multiple other genomes and other functional genomics approaches will be useful to advance our understanding of claudin biology and physiology. Finally, based on a Clustal analysis of full-length claudins, we reported that there is a highly conserved WWCC motif of unknown function within the first loop of the claudins analysed; a motif also reported in alignments of claudins carried out by (Katoh and Katoh, 2003). IntroductionIn multicellular organisms, certain tissues must be separated from each other and protected against the external environment. Epithelial and endothelial sheets achieve this by providing cellular borders that cover external and internal surfaces throughout the body. Complexes between adjacent cells in these sheets include gap junctions, desmosomes, adherence junctions and tight junctions (TJs) -also known as the zonula occludens. Early ultrastructural and morphological data revealed TJs as continuous circumferential intercellular contacts between epithelial cells (Farquhar and Palade, 1963) that create a barrier to the paracellular movement of water, solutes and immune cells (Madara, 1998;Nusrat et al., 2000). Later work showed that this epithelial barrier is heterogeneous in tightness and dynamics depending on the tissue. In addition it is physiologically regulated, and its disruption contributes to human disease. Numerous in-depth reviews on TJs exist (Begley and Brightman, 2003;Fanning et al., 1999; GonzalezMariscal et al., 2003;Heiskala et al., 2001;Madara, 1989;Mitic and Anderson, 1998;Stevenson, 1999;Tsukita and Furuse, 2000a;Tsukita and Furuse, 2000b;Tsukita et al., 2001;Zahraoui et al., 2000). Here we therefore only briefly summarize their essential features and then focus on the recent identification of claudins and our evolving understanding of their contribution to TJ structure and function. Tight...

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Section: Claudin Genes and Claudin Gene Expressionmentioning

confidence: 99%

Barriers built on claudins

Turksen¹,

Troy²

2004

Journal of Cell Science

362

288

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“…Thus, a stop When considered by country, the carrier frequency of this mutation is 3.4% in Italy, 3.5% in Greece, 2.75% in France, and 2.8% in Malta and Portugal, whereas it shows a marked decrease in countries in America and Asia (16). The carrier frequency in Turkey has been reported to range between 1.17% and 1.78% in different studies (17,18). In other studies conducted in Turkey, the c.35delG mutation has been found in 5-53% of individuals with hearing impairment (7,10).…”

Section: Discussionmentioning

confidence: 99%

Research of genetic bases of hereditary non-syndromic hearing loss

et al. 2017

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Aim: Hearing loss is the most common sensory disorder that affects approximately one per 1000 live births. With this project, we aimed to identify gene variants that were common causes of hearing loss in Turkey to contribute to the planning of genetic screening programs for hearing loss, as well as to improve genetic counseling to affected families. Material and Methods: Twenty-one families with at least two affected individuals and parental consanguinity who presented with non-syndromic severe-to-profound sensorineural hearing loss were included in this study. We first screened for mutations in GJB2 and mitochondrial DNA 12S RNA genes. Subsequently, we genotyped the TMIE c. [250C>T] mutation in TMIE in one family. A homozygous region with SNP genotypes was detected with the OTOF gene in one family, the TMPRSS3 gene in another family, and also a homozygous region was detected with TMHS, OTOF, and TMPRSS3 genes in another family. Conclusions: Further research will be required to determine the genetic bases of hearing loss in families with non-syndromic hearing loss.

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“…When the 35delG mutation of the GJB2 gene is mutant in both alleles, it causes SNHL. In NSSNHL patients with familial autosomal recessive inheritance, the rate of 35delG homozygosity was reported as 17.5%-21.7%, and the rate of heterozygous mutation was reported as 1.9%-4.3% (18,25,26). Regarding the familial history of patients in the study group of our study, congenital NSSNHL was determined at least in one person in the families of 18.3% of patients.…”

Section: Discussionmentioning

confidence: 99%

Analysis of Gjb2 (Connexin 26) Mutation in Patients with Congenital Non-Syndromic Sensorineural Hearing Loss

Kaskalan¹,

Önalan²,

Kaygusuz³

et al. 2014

Turk Arch Otolaryngol

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Objective: This study was performed to investigate the GJB2 (connexin 26) gene mutations that are the most frequent cause of sensorineural deafness in patients with congenital non-syndromic sensorineural hearing loss in our region. Methods:Sixty patients [35 males (58.3%) and 25 females (41.7%)] between the age of 2-43 years (12.11±9.03) diagnosed with congenital non-syndromic sensorineural hearing loss were included in the study. The control group consisted of 60 individuals with similar demographic features having no hearing problems. 35delG, 167delT, delE120 and 235delC of GJB2 gene mutations and GJB6 gene mutations, and the presence of new mutations were also investigated by analysis of DNA sequences in all individuals.Results: Mutations were identified in 6 (10%) of the 60 patients in the study group. Five of these (8.3% of total) had 35delG and one (1.7%) had a delE120. No mutation was detected in control group individuals. In the study group, a statistically significant correlation was determined between the presence of familial sensorineural hearing loss history and 35delG or delE120 mutation (p=0.011, p=0.034).Conclusion: This is the first study which investigated the GJB2 gene mutation in our region, and our results indicate that 35delG mutation was the most frequent. We believe that our results are noteworthy for the identification of heterozygous or homozygous individuals and the genetic counseling of patients with congenital non-syndromic sensorineural hearing loss and their family.

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Frequencies of gap‐ and tight‐junction mutations in Turkish families with autosomal‐recessive non‐syndromic hearing loss

Cited by 87 publications

References 34 publications

Barriers built on claudins

Barriers built on claudins

Research of genetic bases of hereditary non-syndromic hearing loss

Analysis of Gjb2 (Connexin 26) Mutation in Patients with Congenital Non-Syndromic Sensorineural Hearing Loss

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