ArticleBMC medical genomics2012
Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform.
Article in BMC medical genomics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 57 citations in OpenAlex.
- Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.Scientific reports · 2026Article
- Implementation of multiomic mass spectrometry approaches for the evaluation of human health following environmental exposure.Molecular omics · 2024Review
- A novel method for detecting nine hotspot mutations of deafness genes in one tube.Scientific reports · 2024Article
- Beyond Cell-Cell Adhesion: Sensational Cadherins for Hearing and Balance.Cold Spring Harbor perspectives in biology · 2018Review
- Applying Two Different Bioinformatic Approaches to Discover Novel Genes Associated with Hereditary Hearing Loss via Whole-Exome Sequencing: ENDEAVOUR and HomozygosityMapper.Advanced biomedical research · 2018Article
- High-throughput PCR assay design for targeted resequencing using primerXL.BMC bioinformatics · 2017Article
- The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.BMC genetics · 2016Observational
- Advances in Molecular Genetics and the Molecular Biology of Deafness.BioMed research international · 2016Article
- Targeted resequencing and variant validation using pxlence PCR assays.Biomolecular detection and quantification · 2016Article
- A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment.Journal of applied genetics · 2015Article
- Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2015Review
- A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing.Journal of human genetics · 2015Article
- High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss.Orphanet journal of rare diseases · 2015Article
- Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.Molecular genetics & genomic medicine · 2015Article
- Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.Genetics in medicine : official journal of the American College of Medical Genetics · 2014Article
- Illumina sequencing of 15 deafness genes using fragmented amplicons.BMC research notes · 2014Article
- Hearing impairment and language delay in infants: Diagnostics and genetics.GMS current topics in otorhinolaryngology, head and neck surgery · 2014Review
- Mung bean nuclease treatment increases capture specificity of microdroplet-PCR based targeted DNA enrichment.PloS one · 2014Article
- Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.Brain : a journal of neurology · 2013Article
- Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss.PloS one · 2013Article
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Authors and funding
17 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundHereditary hearing loss (HL) can originate from mutations in one of many genes involved in the complex process of hearing. Identification of the genetic defects in patients is currently labor intensive and expensive. While screening with Sanger sequencing for GJB2 mutations is common, this is not the case for the other known deafness genes (> 60). Next generation sequencing technology (NGS) has the potential to be much more cost efficient. Published methods mainly use hybridization based target enrichment procedures that are time saving and efficient, but lead to loss in sensitivity. In this study we used a semi-automated PCR amplification and NGS in order to combine high sensitivity, speed and cost efficiency.
resultsIn this proof of concept study, we screened 15 autosomal recessive deafness genes in 5 patients with congenital genetic deafness. 646 specific primer pairs for all exons and most of the UTR of the 15 selected genes were designed using primerXL. Using patient specific identifiers, all amplicons were pooled and analyzed using the Roche 454 NGS technology. Three of these patients are members of families in which a region of interest has previously been characterized by linkage studies. In these, we were able to identify two new mutations in CDH23 and OTOF. For another patient, the etiology of deafness was unclear, and no causal mutation was found. In a fifth patient, included as a positive control, we could confirm a known mutation in TMC1.
conclusionsWe have developed an assay that holds great promise as a tool for screening patients with familial autosomal recessive nonsyndromal hearing loss (ARNSHL). For the first time, an efficient, reliable and cost effective genetic test, based on PCR enrichment, for newborns with undiagnosed deafness is available.
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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.