A systematic review and meta-analysis of common mutations of SLC26A4 gene in Asian populations

Du, Wei; Guo, Yufen; Wang, Changlan; Wang, Yanli; Liu, Xiaowen

doi:10.1016/j.ijporl.2013.07.023

Cited by 22 publications

(27 citation statements)

References 17 publications

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“…The distribution of molecular defects identified in the present study was similar to that in previous reports [5,15]. In subjects with HL in the present study, the 235delC in the GJB2 gene and c.919-2A N G in the SLC26A4 gene were the most common mutations.…”

Section: Discussionsupporting

confidence: 90%

“…We found that mutations in GJB2 were detected in 42.0% (68/162) of all subjects, whereas the carrier rate of mutations in the SLC26A4 gene was 21.0% (34/162). Our previous study showed that 26.21% of patients with NSHL carried at least one variant allele in GJB2, whereas the rate in the SLC26A4 gene was 25.46% [5]. This difference may be caused by the small sample size.…”

Section: Discussionmentioning

confidence: 95%

“…The SNPscan screening system features high sensitivity, high accuracy, cost-effectiveness, high flexibility (the target loci can be easily changed), and easy implementation for any institutes with the DNA sequencing system. Nevertheless, the cost of SNPscan screening is about $26 per sample, which is slightly higher than the cost of the SNaPshot method [5]. The number of target loci of the SNPscan method is 115, which is higher than the 15 loci in the SNaPshot system; nevertheless, only 18 kinds of variants were found in the 100 additional loci.…”

Section: Discussionmentioning

confidence: 97%

“…A newly developed SNPscan method (Genesky Biotechnologies Inc., Suzhou, China) described in our previous study was used to perform SNP genotyping in the GJB2, SLC26A4, and MT-RNR1 genes [5]. The SNPscan technology is a multi-gene mutation screening method that improves the multiplex ligation-dependent probe amplification technology.…”

Section: Snpscan Analysismentioning

confidence: 99%

“…More than 300 genes associated with deafness have been recognized, and hundreds of mutations in at least 85 different genes have been identified for nonsyndromic HL (NSHL). GJB2, SLC26A4, and MT-RNR1 are the most frequent mutant genes identified in patients with NHSL [4][5][6]. In particular, GJB2 accounts for about 50% of NSHL cases.…”

Section: Introductionmentioning

confidence: 99%

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SNPscan as a high-performance screening tool for mutation hotspots of hearing loss-associated genes

Wang

Liu³

et al. 2015

Genomics

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In the present study, to assess the feasibility of the SNPscan technique for mutation screening in patients with nonsyndromic hearing loss (NSHL) and neonatus in China, the SNPscan technique was compared with the SNaPshot screening system. Chinese patients (162) with NSHL were used as the experimental group and 276 children without HL were used as the control group, respectively. SNPscan detected molecular defects in 112 patients (68.5%). In this technique, 83 patients (51.2%) with homozygous or compound heterozygous had confirmed molecular etiology in the GJB2, SLC26A4, and MT-RNR1 genes. By contrast, SNaPshot detected molecular defects in 103 patients (63.6%). In this method, 72 subjects (44.4%) with HL were confirmed to have NSHL caused by these mutations. This study demonstrates that SNPscan performs equally well or better than earlier routine genotyping method for genetic hearing loss, with possibility of detecting a larger variety of mutation.

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Section: Discussionsupporting

confidence: 90%

Section: Discussionmentioning

confidence: 95%

Section: Discussionmentioning

confidence: 97%

Section: Snpscan Analysismentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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