ArticleAmerican journal of medical genetics. Part A2011
Vestibular dysfunction in DFNB1 deafness.
Article in American journal of medical genetics. Part A, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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
15 citing papers in PubMed, 28 citations in OpenAlex.
- Genotype-guided Recall Delineates the Adult Auditory Phenotype in GJB2 p.V37I Homozygotes: High-frequency Vulnerability and Environmental Modulation.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2026Article
- Developmental Expression of Membrane Pumps and Ion Channels in Human Vestibular Endolymph Homeostasis.Developmental neurobiology · 2026Article
- Evolutionary analysis of genes associated with the sense of balance in semi-aquatic mammals.BMC ecology and evolution · 2025Article
- Motor adaptation in deaf and hearing native signers.Journal of deaf studies and deaf education · 2024Article
- Characterization of Vestibular Phenotypes in Patients with Genetic Hearing Loss.Journal of clinical medicine · 2024Article
- Hearing Status and Static Postural Control of Collegiate Athletes.Journal of athletic training · 2023Article
- Article
- Development and evolution of the vestibular apparatuses of the inner ear.Journal of anatomy · 2021Review
- The Severity of Vestibular Dysfunction in Deafness as a Determinant of Comorbid Hyperactivity or Anxiety.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2017Article
- DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.Frontiers in molecular neuroscience · 2017Review
- Genetics of Tinnitus: Still in its Infancy.Frontiers in neuroscience · 2017Review
- A study of whirlin isoforms in the mouse vestibular system suggests potential vestibular dysfunction in DFNB31-deficient patients.Human molecular genetics · 2015Article
- Mice with conditional deletion of Cx26 exhibit no vestibular phenotype despite secondary loss of Cx30 in the vestibular end organs.Hearing research · 2015Article
- GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.Current genomics · 2011Article
- Genetic disorders of the vestibular system.Current opinion in otolaryngology & head and neck surgery · 2011Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
Mutations of GJB2 and GJB6 (connexin-26 and 30) at the DFNB1 locus are the most common cause of autosomal recessive, nonsyndromic deafness. Despite their widespread expression throughout the vestibular system, vestibular dysfunction has not been widely recognized as a commonly associated clinical feature. The observations of vertigo accompanying DFNB1 deafness in several large families prompted our hypothesis that vestibular dysfunction may be an integral, but often overlooked, component of DFNB1 deafness. Our aim was to define the prevalence of vestibular dysfunction in Cases of DFNB1 deafness and Controls with other forms of deafness. We developed and used a survey to assess symptoms of vestibular dysfunction, medical, and family history was distributed to Cases with deafness due to pathogenic GJB2 and/or GJB6 mutations and deaf Controls without DFNB1 deafness. Our results showed: Surveys were returned by 235/515 Cases (46%) with DFNB1 mutations and 121/321 Controls (38%) without these mutations. The mean age of Cases (41) was younger than Controls (51; P < 0.001). Vestibular dysfunction was reported by 127 (54%) of Cases and was present at significantly higher rates in Cases than in deaf Controls without DFNB1 deafness (P < 0.03). Most (63%) had to lie down in order for vertigo to subside, and 48% reported that vertigo interfered with activities of daily living. Vertigo was reported by significantly more Cases with truncating than non-truncating mutations and was also associated with a family history of dizziness. We conclude that vestibular dysfunction appears to be more common in DFNB1 deafness than previously recognized and affects activities of daily living in many patients.
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.