ArticleHuman molecular genetics2015
Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's disease.
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers, 2 of them syntheses that pooled it.
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Who cites it
64 citing papers in PubMed, 2 syntheses or guidelines pooled it, 127 citations in OpenAlex.
- Genome-wide analysis implicates inner ear development in Ménière disease.American journal of human genetics · 2026Pooled it
- Systematic Review of Sequencing Studies and Gene Expression Profiling in Familial Meniere Disease.Genes · 2020Pooled it
- Research progress on the mechanisms and animal models of Ménière's disease.Genes & diseases · 2026Review
- Genetic contributions to familial Ménière's disease: a systematic review.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026Review
- Review
- Epidemiological and clinical differences in Meniere disease across European and East Asian populations.The Journal of international medical research · 2026Review
- The Impact of Genetic Factors in Ménière's Disease.International journal of molecular sciences · 2026Review
- Genome-wide analysis implicates inner ear development in Ménière's disease.medRxiv : the preprint server for health sciences · 2026Article
- Association of Metabolic Dysfunction-Associated Steatotic Liver Disease With Sudden Sensorineural Hearing Loss Among Older Adults.Laryngoscope investigative otolaryngology · 2025Article
- An ultra-rare missense variant in the KIF1B gene linked to autoinflammatory Menière's disease.NPJ genomic medicine · 2025Article
- Article
- Preclinical Models to Study the Molecular Pathophysiology of Meniere's Disease: A Pathway to Gene Therapy.Journal of clinical medicine · 2025Article
- Integrating Mendelian Randomization and Machine Learning to Identify Hypoxia-Related Diagnostic Biomarkers and Causal Relationship in COPD.International journal of chronic obstructive pulmonary disease · 2025Article
- Comprehensive circular RNA profiling in various sheep tissues.Scientific reports · 2024Article
- Genomic insights into adaptation to bipedal saltation and desert-like habitats of jerboas.Science China. Life sciences · 2024Article
- Cross-link assisted spatial proteomics to map sub-organelle proteomes and membrane protein topologies.Nature communications · 2024Article
- RotaRod and acoustic startle reflex performance of two potential mouse models for Meniere's disease.The European journal of neuroscience · 2023Article
- Radiological feature heterogeneity supports etiological diversity among patient groups in Meniere's disease.Scientific reports · 2023Article
- Types of Inheritance and Genes Associated with Familial Meniere Disease.Journal of the Association for Research in Otolaryngology : JARO · 2023Review
- Application of Human Stem Cells to Model Genetic Sensorineural Hearing Loss and Meniere Disease.Cells · 2023Review
4 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
Meniere's disease (MD) is a chronic disorder of the inner ear defined by sensorineural hearing loss, tinnitus and episodic vertigo, and familial MD is observed in 5-15% of sporadic cases. Although its pathophysiology is largely unknown, studies in human temporal bones have found an accumulation of endolymph in the scala media of the cochlea. By whole-exome sequencing, we have identified two novel heterozygous single-nucleotide variants in FAM136A and DTNA genes, both in a Spanish family with three affected cases in consecutive generations, highly suggestive of autosomal-dominant inheritance. The nonsense mutation in the FAM136A gene leads to a stop codon that disrupts the FAM136A protein product. Sequencing revealed two mRNA transcripts of FAM136A in lymphoblasts from patients, which were confirmed by immunoblotting. Carriers of the FAM136A mutation showed a significant decrease in the expression level of both transcripts in lymphoblastoid cell lines. The missense mutation in the DTNA gene produces a novel splice site which skips exon 21 and leads to a shorter alternative transcript. We also demonstrated that FAM136A and DTNA proteins are expressed in the neurosensorial epithelium of the crista ampullaris of the rat by immunohistochemistry. While FAM136A encodes a mitochondrial protein with unknown function, DTNA encodes a cytoskeleton-interacting membrane protein involved in the formation and stability of synapses with a crucial role in the permeability of the blood-brain barrier. Neither of these genes has been described in patients with hearing loss, FAM136A and DTNA being candidate gene for familiar MD.
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