Trial reportPloS one2013
Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.
Trial report in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
31 citing papers in PubMed, 65 citations in OpenAlex.
- Novel examples of NMD escape through alternative intronic polyadenylation.NAR genomics and bioinformatics · 2026Article
- The Diverse Genetic Landscape of Hearing Impairment in South African Families.Clinical genetics · 2025Article
- Liquid-Liquid Phase Separation in Hereditary Hearing Loss.Neuroscience bulletin · 2025Review
- Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Biallelic variants inBrain communications · 2025Article
- The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.Scientific reports · 2024Article
- Genetic characterization of Macaca arctoides: A highlight of key genes and pathways.Primates; journal of primatology · 2023Article
- ARNSHL gene identification: past, present and future.Molecular genetics and genomics : MGG · 2022Review
- Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.Human genetics · 2022Review
- Article
- Role of the Stria Vascularis in the Pathogenesis of Sensorineural Hearing Loss: A Narrative Review.Frontiers in neuroscience · 2021Review
- Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation.The journal of international advanced otology · 2021Article
- Practical aspects of inner ear gene delivery for research and clinical applications.Hearing research · 2020Review
- RNA polymerase III transcription as a disease factor.Genes & development · 2020Review
- Characterization of the development of the mouse cochlear epithelium at the single cell level.Nature communications · 2020Article
- ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Genetic Hearing Loss and Gene Therapy.Genomics & informatics · 2018Article
- Maf1 and Repression of RNA Polymerase III-Mediated Transcription Drive Adipocyte Differentiation.Cell reports · 2018Article
- Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population.Scientific reports · 2017Article
- Dynamic Editome of Zebrafish under Aminoglycosides Treatment and Its Potential Involvement in Ototoxicity.Frontiers in pharmacology · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 5 institutions in 3 countries.
Funding
Abstract
Nonsyndromic Hereditary Hearing Loss is a common disorder accounting for at least 60% of prelingual deafness. GJB2 gene mutations, GJB6 deletion, and the A1555G mitochondrial mutation play a major role worldwide in causing deafness, but there is a high degree of genetic heterogeneity and many genes involved in deafness have not yet been identified. Therefore, there remains a need to search for new causative mutations. In this study, a combined strategy using both linkage analysis and sequencing identified a new mutation causing hearing loss. Linkage analysis identified a region of 40 Mb on chromosome 5q13 (LOD score 3.8) for which exome sequencing data revealed a mutation (c.7873 T>G leading to p.*2625Gluext*11) in the BDP1 gene (B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB) in patients from a consanguineous Qatari family of second degree, showing bilateral, post-lingual, sensorineural moderate to severe hearing impairment. The mutation disrupts the termination codon of the transcript resulting in an elongation of 11 residues of the BDP1 protein. This elongation does not contain any known motif and is not conserved across species. Immunohistochemistry studies carried out in the mouse inner ear showed Bdp1 expression within the endothelial cells in the stria vascularis, as well as in mesenchyme-derived cells surrounding the cochlear duct. The identification of the BDP1 mutation increases our knowledge of the molecular bases of Nonsyndromic Hereditary Hearing Loss and provides new opportunities for the diagnosis and treatment of this disease in the Qatari population.
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What OpenQuestion holds
Registered trials
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.