ArticleAmerican journal of human genetics2003
Mutations of MYO6 are associated with recessive deafness, DFNB37.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 93 papers.
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Who cites it
93 citing papers in PubMed, 200 citations in OpenAlex.
- The prevalence of protein misfolding as a mechanism for hereditary deafness.PLoS genetics · 2026Article
- Assessment of auditory and vestibular function and gene therapy in the Snell's waltzer mouse model of human deafness and balance dysfunction.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
- MYO6 and Heart: A Novel Variant in a Deaf Infant With Supraventricular Tachycardia.Molecular genetics & genomic medicine · 2026Article
- A novel MYO6 variant identified in a Chinese family with autosomal dominant non-syndromic hearing loss.BMC medical genomics · 2026Article
- Exploring AAV-Mediated Gene Therapy for Inner Ear Diseases: from Preclinical Success to Clinical Potential.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Review
- Dominant effect of a single amino acid mutation in the motor domain of myosin VI on hearing in mice.Experimental animals · 2025Article
- UtilizingJournal of developmental biology · 2025Review
- From genomic discovery to application in age-related hearing loss: a global bibliometric and cross-ethnic analysis.Frontiers in aging neuroscience · 2025Article
- Article
- MYH1 deficiency disrupts outer hair cell electromotility, resulting in hearing loss.Experimental & molecular medicine · 2024Article
- Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.Journal of cellular and molecular medicine · 2024Review
- Critical role of TPRN rings in the stereocilia for hearing.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Breaking genetic shackles: The advance of base editing in genetic disorder treatment.Frontiers in pharmacology · 2024Review
- Pathophysiology of human hearing loss associated with variants in myosins.Frontiers in physiology · 2024Review
- Ramifications of POU4F3 variants associated with autosomal dominant hearing loss in various molecular aspects.Scientific reports · 2023Article
- Rare-variant association analysis reveals known and new age-related hearing loss genes.European journal of human genetics : EJHG · 2023Article
- Functional and developmental changes in the inner hair cell ribbon synapses caused by Myosin VI knockout and deafness-inducing point mutation.Cell death discovery · 2023Article
- The applications of CRISPR/Cas-mediated genome editing in genetic hearing loss.Cell & bioscience · 2023Review
- Mechanoelectrical transduction-related genetic forms of hearing loss.Current opinion in physiology · 2023Article
- Whole exome sequencing reveals genetic landscape associated with left ventricular outflow tract obstruction in Chinese Han population.Frontiers in genetics · 2023Article
33 more citing papers are in PubMed but not listed here.
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Authors and funding
15 authors at 4 institutions in 3 countries.
Funding
Abstract
Cosegregation of profound, congenital deafness with markers on chromosome 6q13 in three Pakistani families defines a new recessive deafness locus, DFNB37. Haplotype analyses reveal a 6-cM linkage region, flanked by markers D6S1282 and D6S1031, that includes the gene encoding unconventional myosin VI. In families with recessively inherited deafness, DFNB37, our sequence analyses of MYO6 reveal a frameshift mutation (36-37insT), a nonsense mutation (R1166X), and a missense mutation (E216V). These mutations, along with a previously published missense allele linked to autosomal dominant progressive hearing loss (DFNA22), provide an allelic spectrum that probes the relationship between myosin VI dysfunction and the resulting phenotype.
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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.