Observational studyMedicine2017
Efficiency of microarray and SNPscan for the detection of hearing loss gene in 71 cases with nonsyndromic hearing loss.
Observational study in Medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed.
- Full etiologic spectrum of pediatric severe to profound hearing loss of consecutive 119 cases.Scientific reports · 2022Article
- Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next-generation sequencing of the SLC26A4 gene.Molecular genetics & genomic medicine · 2021Article
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We aim to screen the mutations of 3 hearing loss (HL) genes (GJB2, SLC26A4, and 12S rRNA) in 71 cases with nonsyndromic hearing loss (NSHL) using microarray and SNPscan, and identify the roles of nonhotspot mutation of these genes in the screening of NSHL. Seventy-one cases with moderate or severe neurosensory deafness confirmed in our department from July 2014 to December 2015 including 25 Uyghur minorities and 46 Han Chinese were included in this study. The type of mutations in GJB2, SLC26A4, and 12S rRNA genes were detected using microarray and SNPscan, respectively. Statistical difference was noticed in the detection rate of the HL genes in 71 cases. Using microassay, deafness genes were identified in 10 subjects (14.08%), while 22 cases (30.98%) were confirmed with the presence of deafness genes using the SNPscan. Compared with the microarray, remarkable difference was noticed in the detection rate of SNPscan (P < .05). Nonhotspot mutation in GJB2, SLC26A4, and 12S rRNA genes played a crucial role in the pathogenesis of NSHL. SNPscan contributed to elevation of detection rate of NSHL in clinical practice.
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