ArticleHuman genetics2016
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
Article in Human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers, 1 of them a synthesis that pooled it.
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.
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Who cites it
86 citing papers in PubMed, 1 synthesis or guideline pooled it, 137 citations in OpenAlex.
- Racial and ethnic disparities in genetic testing for hearing loss: a systematic review and synthesis.Human genetics · 2022Pooled it
- Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population-Specific Variants and Clinical Correlations.Clinical genetics · 2026Article
- A UniqueInternational journal of molecular sciences · 2026Article
- Genomic Biomarkers and Mutational Landscape of Nonsyndromic Hearing Loss (NSHL) in the Singaporean Population: Clinical Translational Implications.Biomolecules · 2026Article
- GJB2 c.109G > A mutation activating IFI27-mediated mitochondrial apoptosis pathway leading to hereditary non-syndromic hearing loss.Scientific reports · 2026Article
- Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment.Journal of applied genetics · 2025Article
- The Diverse Genetic Landscape of Hearing Impairment in South African Families.Clinical genetics · 2025Article
- The clinical and genetic spectrum of twenty-six individuals with hearing loss affected by MYO15A variants.Scientific reports · 2025Article
- Unraveling the Genetic Landscape of Hearing Loss: A Comprehensive Study of Azeri Families in Ardabil, Iran.Molecular genetics & genomic medicine · 2025Article
- Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.HGG advances · 2025Article
- A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family.BMC medical genomics · 2024Article
- Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China.Heliyon · 2024Article
- Article
- 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
- High prevalence of syndromic hearing loss in Mexican children undergoing cochlear implantation.Laryngoscope investigative otolaryngology · 2024Article
- Genetic Landscape of Hearing Loss in the Caribbean: A Narrative Review.Balkan medical journal · 2024Review
- 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
- Spectrum of genetic variants in bilateral sensorineural hearing loss.Frontiers in genetics · 2024Article
- Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study.Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale · 2023Article
26 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
31 authors at 13 institutions in 9 countries.
Funding
Abstract
Hearing loss is the most common sensory deficit in humans with causative variants in over 140 genes. With few exceptions, however, the population-specific distribution for many of the identified variants/genes is unclear. Until recently, the extensive genetic and clinical heterogeneity of deafness precluded comprehensive genetic analysis. Here, using a custom capture panel (MiamiOtoGenes), we undertook a targeted sequencing of 180 genes in a multi-ethnic cohort of 342 GJB2 mutation-negative deaf probands from South Africa, Nigeria, Tunisia, Turkey, Iran, India, Guatemala, and the United States (South Florida). We detected causative DNA variants in 25 % of multiplex and 7 % of simplex families. The detection rate varied between 0 and 57 % based on ethnicity, with Guatemala and Iran at the lower and higher end of the spectrum, respectively. We detected causative variants within 27 genes without predominant recurring pathogenic variants. The most commonly implicated genes include MYO15A, SLC26A4, USH2A, MYO7A, MYO6, and TRIOBP. Overall, our study highlights the importance of family history and generation of databases for multiple ethnically discrete populations to improve our ability to detect and accurately interpret genetic variants for pathogenicity.
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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.