ReviewFrontiers in bioscience (Landmark edition)2012
Autosomal recessive nonsyndromic deafness genes: a review.
Review in Frontiers in bioscience (Landmark edition), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers, 1 of them a synthesis that pooled it.
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
81 citing papers in PubMed, 1 synthesis or guideline pooled it, 148 citations in OpenAlex.
- Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges.Human genetics · 2022Pooled it
- Trial
- Spectrum of DNA Variants Underlying Deafness in an Ecuadorian Cohort.Biochemical genetics · 2026Article
- Connexin 26 in Hearing Health and Disease: StructuralFoundations, Mutation Mechanisms, and Therapeutic Perspectives.International journal of molecular sciences · 2026Review
- GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.International journal of molecular sciences · 2026Review
- Review
- A pore locus in the E1 domain differentially regulates Cx26 and Cx30 hemichannel function.The Journal of general physiology · 2024Article
- An Ala/Glu difference in E1 of Cx26 and Cx30 contributes to their differential anionic permeabilities.The Journal of general physiology · 2024Article
- Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China.Heliyon · 2024Article
- Autosomal Recessive Non-Syndromic Deafness: Is AAV Gene Therapy a Real Chance?Audiology research · 2024Review
- Recovery kinetics of dual AAV-mediated human otoferlin expression.Frontiers in molecular neuroscience · 2024Article
- Engineering of the AAV-Compatible Hair Cell-Specific Small-Size Myo15 Promoter for Gene Therapy in the Inner Ear.Research (Washington, D.C.) · 2024Article
- Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families.Frontiers in genetics · 2024Article
- Selection of viral capsids and promoters affects the efficacy of rescue ofMolecular therapy. Methods & clinical development · 2023Article
- Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families.Human genomics · 2023Article
- Connexin 26 (GJB2) Mutations Associated with Congenital Hearing Loss in a Country of Different Migration Routes: Turkey.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2023Article
- The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.Biomedicines · 2023Article
- Is there an unmet medical need for improved hearing restoration?EMBO molecular medicine · 2022Review
- Hearing loss in Africa: current genetic profile.Human genetics · 2022Review
- Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.BMC medical genomics · 2022Article
21 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
More than 50 Percent of prelingual hearing loss is genetic in origin, and of these up to 93 Percent are monogenic autosomal recessive traits. Some forms of genetic deafness can be recognized by their associated syndromic features, but in most cases, hearing loss is the only finding and is referred to as nonsyndromic deafness. To date, more than 700 different mutations have been identified in one of 42 genes in individuals with autosomal recessive nonsyndromic hearing loss (ARNSHL). Reported mutations in GJB2, encoding connexin 26, makes this gene the most common cause of hearing loss in many populations. Other relatively common deafness genes include SLC26A4, MYO15A, OTOF, TMC1, CDH23, and TMPRSS3. In this report we summarize genes and mutations reported in families with ARNSHL. Founder effects were demonstrated for some recurrent mutations but the most significant findings are the extreme locus and allelic heterogeneity and different spectrum of genes and mutations in each population.
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.