Dataset Information

Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.

ABSTRACT: Many SLC26A4 mutations have been identified in patients with nonsyndromic enlarged vestibular aqueduct (EVA). However, the roles of SLC26A4 genotypes and phenotypes in hereditary deafness remain unexplained. This study aims to perform a meta-analysis based on the PRISMA statement to evaluate the diagnostic value of SLC26A4 mutant alleles and their correlations with multiethnic hearing phenotypes in EVA patients. The systematic literature search of the PubMed, Wiley Online Library, EMBASE, Web of Science, and Science Direct databases was conducted in English for articles published before July 15, 2015. Two investigators independently reviewed retrieved literature and evaluated eligibility. Discrepancy was resolved by discussion and a third investigator. Quality of included studies was evaluated using Newcastle-Ottawa Quality Assessment Scale. Data were synthesized using random-effect or fixed-effect models. The effect sizes were estimated by measuring odds ratios (ORs) with 95% confidence interval (CI). Twenty-five eligible studies involved 2294 cases with EVA data. A total of 272 SLC26A4 variations were found in deafness with EVA and 26 mutations of SCL26A4 had higher frequency. The overall OR was 646.71 (95% CI: 383.30-1091.15, P?=?0.000). A total of 22 mutants were considered statistically significant in all ethnicities (ORs >1, P?1, P?1, P?G mutations in SLC26A4 were found to have the highest frequency in deafness individuals with EVA phenotype (62.42%). Moreover, subgroups for studies limited to cases with EVA phenotype, 11 mutants relevant risks (RRs) were P?G bi-allelic mutants assayed in a deafness population (RR?=?0.880, P?=?0.000). Diagnostic accuracy of SLC26A4 mutation results also identified the significant association of IVS7-2A>G (AUC?=?0.99, 95% CI: 0.97-0.99) and p.H723R (AUC?=?0.99, 95% CI: 0.98-1.00) detecting deafness with EVA. To conclude, the IVS7-2A>G and H723R in SLC26A4 present a significant predicting value and discriminatory ability for clinical use on diagnosis of EVA within a deafness population.

SUBMITTER: Lu YJ

PROVIDER: S-EPMC5058913 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature

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Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.

Lu Ya-Jie YJ Yao Jun J Wei Qin-Jun QJ Xing Guang-Qian GQ Cao Xin X

Medicine 20151201 50

Many SLC26A4 mutations have been identified in patients with nonsyndromic enlarged vestibular aqueduct (EVA). However, the roles of SLC26A4 genotypes and phenotypes in hereditary deafness remain unexplained. This study aims to perform a meta-analysis based on the PRISMA statement to evaluate the diagnostic value of SLC26A4 mutant alleles and their correlations with multiethnic hearing phenotypes in EVA patients. The systematic literature search of the PubMed, Wiley Online Library, EMBASE, Web of ...[more]

PMID: 26683941

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Project description:Background:Circular RNAs (circRNAs) have been shown to be involved in tumorigenesis. As a member of circRNAs, ciRS-7 is thought to be a negative prognostic indicator in multiple types of cancer. The present study aimed to comprehensively explore the value of ciRS-7 in tumor malignancy. Materials and Methods. A systematic review of PubMed, Web of Science, and the Cochrane library was carried out to examine the related studies. The pooled odds ratios (ORs) and hazard ratios (HRs) with 95% confidence intervals (95% CIs) were calculated from the available publications by STATA 12.0. Subgroup analysis, publication bias, sensitivity analysis, and meta-regression were conducted. Results:This meta-analysis included 1,714 patients from 13 cohorts. The results suggested that high ciRS-7 expression was significantly associated with overall survival (OS) (HR?=?2.17, 95% CI?=?1.50-3.15, P < 0.001) in various cancers. Stratified analyses indicated that elevated levels of ciRS-7 appeared to be a powerful prognostic biomarker for patients with non-small-cell lung cancer (NSCLC) (HR: 2.50, 95% CI: 1.07-6.07, P < 0.001) in various cancers. Stratified analyses indicated that elevated levels of ciRS-7 appeared to be a powerful prognostic biomarker for patients with non-small-cell lung cancer (NSCLC) (HR: 2.50, 95% CI: 1.07-6.07, P < 0.001) in various cancers. Stratified analyses indicated that elevated levels of ciRS-7 appeared to be a powerful prognostic biomarker for patients with non-small-cell lung cancer (NSCLC) (HR: 2.50, 95% CI: 1.07-6.07, P < 0.001) in various cancers. Stratified analyses indicated that elevated levels of ciRS-7 appeared to be a powerful prognostic biomarker for patients with non-small-cell lung cancer (NSCLC) (HR: 2.50, 95% CI: 1.07-6.07, P < 0.001) in various cancers. Stratified analyses indicated that elevated levels of ciRS-7 appeared to be a powerful prognostic biomarker for patients with non-small-cell lung cancer (NSCLC) (HR: 2.50, 95% CI: 1.07-6.07. Conclusions:High expression of ciRS-7 has a significant correlation with the high stage in various cancers, and ciRS-7 is intimately associated with an adverse OS in numerous cancers. Thus, ciRS-7 may act as a potential biomarker for the development of malignancies.

Project description:BACKGROUND:Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often severe or profound, which may be associated with abnormalities of the inner ear, such as dilatation of the vestibular aqueduct or Mondini dysplasia. But, in Pendred syndrome (OMIM #274600), with autosomal recessive inheritance, besides congenital sensorineural deafness, goiter or thyroid dysfunctions are frequently present. The aim of this study was to determine whether mutations in SLC26A4 are a frequent cause of hereditary deafness in Brazilian patients. METHODS:Microsatellite haplotypes linked to SLC26A4 were investigated in 68 families presenting autosomal recessive non-syndromic deafness. In the probands of the 16 families presenting segregation consistent with linkage to SLC26A4, Sanger sequencing of the 20 coding exons was performed. In an additional sample of 15 individuals with suspected Pendred syndrome, because of the presence of hypothyroidism or cochleovestibular malformations, the SLC26A4 gene coding region was also sequenced. RESULTS:In two of the 16 families with indication of linkage to SLC26A4, the probands were found to be compound heterozygotes for probably pathogenic different mutations: three novel (c.1003 T?>?G (p. F335 V), c.1553G?>?A (p.W518X), c.2235?+?2 T?>?C (IVS19?+?2 T?>?C), and one already described, c.84C?>?A (p.S28R). Two of the 15 individuals with suspected Pendred syndrome because of hypothyreoidism or cochleovestibular malformations were monoallelic for likely pathogenic mutations: a splice mutation (IVS7?+?2 T?>?C) and the previously described c.1246A?>?C (p.T416P). Pathogenic copy number variations were excluded in the monoallelic cases and in those with normal results after Sanger sequencing. Additional mutations in the SLC26A4 gene or other definite molecular cause for deafness were not identified in the monoallelic patients, after exome sequencing. CONCLUSIONS:Biallelic pathogenic mutations in SLC26A4 explained ~?3% of cases selected because of autosomal recessive deafness. Monoallelic mutations were present in ~?13% of isolated cases of deafness with cochleovestibular malformations or suspected Pendred syndrome. These data reinforce the importance of mutation screening of SLC26A4 in Brazilian subjects and highlight the elevated frequency of monoallelic patients.

Dataset Information

Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.

Publications

Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.

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