ArticleAmerican journal of human genetics1999
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 83 citations in OpenAlex.
- Unveiling the Prevalence and Surgical Burden of Neurocristopathies: A Scoping Review and Statistical Analysis.Research square · 2026Article
- Genetic spectrum and clinical features of PMP22 point mutations in Japanese Charcot-Marie-Tooth disease.Journal of neurology · 2026Article
- Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants.Brain : a journal of neurology · 2026Article
- A comparative phenotypic analysis of a heterogeneous PMP22 cohort presenting with persistent toe-walking versus classic PMP22-related Neuropathies.Global medical genetics · 2026Article
- Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact ofmedRxiv : the preprint server for health sciences · 2025Article
- Hidden hearing loss in a Charcot-Marie-Tooth type 1A mouse model.JCI insight · 2024Article
- Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.Genes · 2022Article
- Macrostructural Changes of the Acoustic Radiation in Humans with Hearing Loss and Tinnitus Revealed with Fixel-Based Analysis.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2021Article
- New evidence for secondary axonal degeneration in demyelinating neuropathies.Neuroscience letters · 2021Review
- PMP22 Gene-Associated Neuropathies: Phenotypic Spectrum in a Cohort from India.Journal of molecular neuroscience : MN · 2020Article
- A charcot-marie-tooth type 1B kindred associated with hemifacial spasm and trigeminal neuralgia.Muscle & nerve · 2019Article
- Myelin development, plasticity, and pathology in the auditory system.Developmental neurobiology · 2018Review
- ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.Scientific reports · 2017Article
- Transient auditory nerve demyelination as a new mechanism for hidden hearing loss.Nature communications · 2017Article
- Mutation of Foxo3 causes adult onset auditory neuropathy and alters cochlear synapse architecture in mice.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2013Article
- Loudness adaptation accompanying ribbon synapse and auditory nerve disorders.Brain : a journal of neurology · 2013Article
- The PMP22 gene and its related diseases.Molecular neurobiology · 2013Review
- Gene expression associated with the onset of hearing detected by differential display in rat organ of Corti.European journal of human genetics : EJHG · 2010Article
- Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in the PMP22 gene, coexisting with a slowly progressive hearing impairment.Journal of applied genetics · 2010Article
- Tricellulin is a tight-junction protein necessary for hearing.American journal of human genetics · 2006Article
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
Charcot-Marie-Tooth disease (CMT) with deafness is clinically distinct among the genetically heterogeneous group of CMT disorders. Molecular studies in a large family with autosomal dominant CMT and deafness have not been reported. The present molecular study involves a family with progressive features of CMT and deafness, originally reported by Kousseff et al. Genetic analysis of 70 individuals (31 affected, 28 unaffected, and 11 spouses) revealed linkage to markers on chromosome 17p11.2-p12, with a maximum LOD score of 9.01 for marker D17S1357 at a recombination fraction of .03. Haplotype analysis placed the CMT-deafness locus between markers D17S839 and D17S122, a approximately 0.6-Mb interval. This critical region lies within the CMT type 1A duplication region and excludes MYO15, a gene coding an unconventional myosin that causes a form of autosomal recessive deafness called DFNB3. Affected individuals from this family do not have the common 1.5-Mb duplication of CMT type 1A. Direct sequencing of the candidate peripheral myelin protein 22 (PMP22) gene detected a unique G-->C transversion in the heterozygous state in all affected individuals, at position 248 in coding exon 3, predicted to result in an Ala67Pro substitution in the second transmembrane domain of PMP22.
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