ArticlePloS one2015
Targeted next-generation sequencing in Uyghur families with non-syndromic sensorineural hearing loss.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 39 citations in OpenAlex.
- Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss.BMC medical genomics · 2024Article
- Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions.BMC medical genomics · 2023Article
- Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep-intronic variant in a Chinese child with profound hearing loss.Molecular genetics & genomic medicine · 2023Article
- Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A.BMC medical genomics · 2022Article
- Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.BMC medical genomics · 2022Article
- How Zebrafish Can Drive the Future of Genetic-based Hearing and Balance Research.Journal of the Association for Research in Otolaryngology : JARO · 2021Review
- New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2021Article
- Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.European journal of human genetics : EJHG · 2020Article
- Distinct functions of TMC channels: a comparative overview.Cellular and molecular life sciences : CMLS · 2019Review
- Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss.BMC medical genetics · 2019Article
- Validation of Ion TorrentGenes · 2018Article
- Mutation spectra and founder effect of TMC1 in patients with non-syndromic deafness in Xiamen area, China.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2018Article
- Identification of a novel MYO7A mutation in Usher syndrome type 1.Oncotarget · 2018Article
- ThreeNeural plasticity · 2018Article
- Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique.Disease markers · 2018Article
- Carrier re-sequencing reveals rare but benign variants in recessive deafness genes.Scientific reports · 2017Article
- Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.Human mutation · 2016Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The mutation spectrum of deafness genes may vary in different ethnical groups. In this study, we investigated the genetic etiology of nonsyndromic deafness in four consanguineous and two multiplex Uyghur families in which mutations in common deafness genes GJB2, SLC26A4 and MT-RNR1 were excluded. Targeted next-generation sequencing of 97 deafness genes was performed in the probands of each family. Novel pathogenic mutations were identified in four probands including the p.L416R/p.A438T compound heterozygous mutations in TMC1, the homozygous p.V1880E mutation in MYO7A, c.1238delT frameshifting deletion in PCDH15 and c.9690+1G>A splice site mutation in MYO15A. Co-segregation of the mutations and the deafness were confirmed within each family by Sanger sequencing. No pathogenic mutations were identified in one multiplex family and one consanguineous family. Our study provided a useful piece of information for the genetic etiology of deafness in Uyghurs.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.