ArticleBMC genomics2013
Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family.
Article in BMC genomics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 40 citations in OpenAlex.
- Trial
- A Novel Mutation in ACTG1 as the Probable Cause of Nonsyndromic Hearing Loss in Chinese Han Population.Neural plasticity · 2026Article
- Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.Journal of clinical medicine · 2024Review
- Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review.Biomedicines · 2023Review
- Human deafness-associated variants alter the dynamics of key molecules in hair cell stereocilia F-actin cores.Human genetics · 2022Review
- De NovoInternational journal of molecular sciences · 2022Article
- DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.Audiology research · 2021Article
- inCNV: An Integrated Analysis Tool for Copy Number Variation on Whole Exome Sequencing.Evolutionary bioinformatics online · 2020Review
- Genotype-Phenotype Correlation for Predicting Cochlear Implant Outcome: Current Challenges and Opportunities.Frontiers in genetics · 2020Review
- ACTG1 and TLR3 are biomarkers for alcohol-associated hepatocellular carcinoma.Oncology letters · 2019Article
- RRAD suppresses the Warburg effect by downregulating ACTG1 in hepatocellular carcinoma.OncoTargets and therapy · 2019Article
- Central and Peripheral Changes in FOS Expression in Schizophrenia Based on Genome-Wide Gene Expression.Frontiers in genetics · 2019Article
- Amino acid 118 in the Deafness Causing (DFNA20/26)Gene reports · 2018Article
- A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report.Molecular medicine reports · 2018Article
- Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation.PloS one · 2017Article
- Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation.BMC genetics · 2016Article
- Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss.BMC genomics · 2014Article
- Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.Journal of translational medicine · 2014Article
- Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication.Orphanet journal of rare diseases · 2014Article
- TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.Human mutation · 2014Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe genetic heterogeneity of sensorineural hearing loss is a major hurdle to the efficient discovery of disease-causing genes. We designed a multiphasic analysis of copy number variation (CNV), linkage, and single nucleotide variation (SNV) of whole exome sequencing (WES) data for the efficient discovery of mutations causing nonsyndromic hearing loss (NSHL).
resultsFrom WES data, we identified five distinct CNV loci from a NSHL family, but they were not co-segregated among patients. Linkage analysis based on SNVs identified six candidate loci (logarithm of odds [LOD] >1.5). We selected 15 SNVs that co-segregated with NSHL in the family, which were located in six linkage candidate loci. Finally, the novel variant p.M305T in ACTG1 (DFNA20/26) was selected as a disease-causing variant.
conclusionsHere, we present a multiphasic CNV, linkage, and SNV analysis of WES data for the identification of a candidate mutation causing NSHL. Our stepwise, multiphasic approach enabled us to expedite the discovery of disease-causing variants from a large number of patient variants.
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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.