ArticleClinical genetics2017
Genetic causes of moderate to severe hearing loss point to modifiers.
Article in Clinical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
32 citing papers in PubMed, 50 citations in OpenAlex.
- Mutational spectrum of SLC26A4 and SLC26A5 associated with hereditary hearing loss in Moroccan families.Human genomics · 2026Article
- Situational analysis of health systems for ear and hearing care in the World Health Organization (WHO) Eastern Mediterranean Region: A systematic review and evidence synthesis to inform national policies and strategies.SSM - health systems · 2026Article
- Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.Scientific reports · 2026Article
- Pathogenesis and research progress of OTOF gene related auditory neuropathy: a retrospective review.American journal of translational research · 2025Review
- Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.Scientific reports · 2024Article
- Compound Heterozygous Mutations ofInternational journal of molecular sciences · 2024Article
- Unraveling the Genetic Basis of Combined Deafness and Male Infertility Phenotypes through High-Throughput Sequencing in a Unique Cohort from South India.Advanced genetics (Hoboken, N.J.) · 2024Article
- Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.European journal of human genetics : EJHG · 2024Article
- Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.Journal of cellular and molecular medicine · 2024Review
- Article
- Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.Journal of human genetics · 2023Article
- The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review.Human genetics · 2023Review
- Elucidation of repeat motifs R1- and R2-related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals.Molecular genetics & genomic medicine · 2022Article
- Molecular genetic landscape of hereditary hearing loss in Pakistan.Human genetics · 2022Review
- Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.BMC medical genomics · 2022Article
- [Identifications of the novel mutants onLin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2022Article
- A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred.BMC medical genomics · 2021Article
- Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss.Molecular biology reports · 2020Article
- The worldwide frequency of MYO15A gene mutations in patients with non-syndromic hearing loss: A meta-analysis.Iranian journal of basic medical sciences · 2020Review
- Etiology of newborn hearing impairment in Guangdong province: 10-year experience with screening, diagnosis, and follow-up.World journal of pediatrics : WJP · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 3 institutions in 2 countries.
Funding
Abstract
The genetic underpinnings of recessively inherited moderate to severe sensorineural hearing loss are not well understood, despite its higher prevalence in comparison to profound deafness. We recruited 92 consanguineous families segregating stable or progressive, recessively inherited moderate or severe hearing loss. We utilized homozygosity mapping, Sanger sequencing, targeted capture of known deafness genes with massively parallel sequencing and whole exome sequencing to identify the molecular basis of hearing loss in these families. Variants of the known deafness genes were found in 69% of the participating families with the SLC26A4, GJB2, MYO15A, TMC1, TMPRSS3, OTOF, MYO7A and CLDN14 genes together accounting for hearing loss in 54% of the families. We identified 20 reported and 21 novel variants in 21 known deafness genes; 16 of the 20 reported variants, previously associated with stable, profound deafness were associated with moderate to severe or progressive hearing loss in our families. These data point to a prominent role for genetic background, environmental factors or both as modifiers of human hearing loss severity.
Indexed as
Identifiers
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.