ArticleMolecular vision2010
Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.
Article in Molecular vision, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.BMC medical genomics · 2023Pooled it
- Region-resolved proteomic map of the human brain: functional interconnections and neurological implications.Signal transduction and targeted therapy · 2026Article
- SID/SIEDP expert consensus on optimizing clinical strategies for early detection and management of wolfram syndrome.Journal of endocrinological investigation · 2025Review
- The Heterozygous p.A684V Variant in theGenes · 2025Article
- The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes.Scientific reports · 2023Article
- Audiometric Evaluation of the Relationship between Sensorineural Hearing Loss and Chronic Glaucoma.Turkish journal of ophthalmology · 2023Article
- Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.Scientific reports · 2022Article
- Cochlear Implantation Outcomes in Patients with Auditory Neuropathy Spectrum Disorder of Genetic and Non-Genetic Etiologies: A Multicenter Study.Biomedicines · 2022Article
- A Novel MissenseBioMed research international · 2022Article
- [The value of genetic diagnosis of deafness in evaluating the prognosis of cochlear implantation].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2021Article
- Article
- Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.Frontiers in neurology · 2021Article
- The Role of Mitochondria in Optic Atrophy With Autosomal Inheritance.Frontiers in neuroscience · 2021Review
- Current Drug Repurposing Strategies for Rare Neurodegenerative Disorders.Frontiers in pharmacology · 2021Review
- Increased Incidence of Glaucoma in Sensorineural Hearing Loss: A Population-Based Cohort Study.International journal of environmental research and public health · 2019Article
- A Missense Mutation inJournal of ophthalmology · 2019Article
- Mutation screening in non-syndromic hearing loss patients with cochlear implantation by massive parallel sequencing in Taiwan.PloS one · 2019Article
- Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.Human mutation · 2018Article
- Wolfram syndrome: MAMs' connection?Cell death & disease · 2018Review
- WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.PloS one · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo describe the phenotype of a novel Wolframin (WFS1) mutation in a family with autosomal dominant optic neuropathy and deafness. The study is designed as a retrospective observational case series.
methodsSeven members of a Dutch family underwent ophthalmological, otological, and genetical examinations in one institution. Fasting serum glucose was assessed in the affected family members.
resultsAll affected individuals showed loss of neuroretinal rim of the optic nerve at fundoscopy with enlarged blind spots at perimetry. They showed a red-green color vision defect at color vision tests and deviations at visually evoked response tests. The audiograms of the affected individuals showed hearing loss and were relatively flat. The unaffected individuals showed no visual deviations or hearing impairment. The affected family members had no glucose intolerance. Leber hereditary optic neuropathy (LHON) mitochondrial mutations and mutations in the Optic atrophy-1 gene (OPA1) were excluded. In the affected individuals, a novel missense mutation c.2508G>C (p.Lys836Asn) in exon 8 of WFS1 was identified.
conclusionsThis study describes the phenotype of a family with autosomal dominant optic neuropathy and hearing impairment associated with a novel missense mutation in WFS1.
Indexed as
Identifiers
20069065PMC2805421W2143221557What 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.