ArticleNeurogenetics2012
Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.
Article in Neurogenetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 28 citations in OpenAlex.
- Novel genetic and nerve imaging characterization of Charcot-Marie-Tooth disease type 4F.Neurogenetics · 2026Article
- The intrinsically disordered protein glue of the myelin major dense line: Linking AlphaFold2 predictions to experimental data.Biochemistry and biophysics reports · 2023Article
- Contactin-Associated Protein-Like 2-Related Peripheral Nerve Hyperexcitability Associated With Charcot-Marie-Tooth Type 4F.The Neurohospitalist · 2023Article
- Novel Variants inGenes · 2023Article
- Screening forFrontiers in neurology · 2023Article
- Pathological evidence of demyelination in the recurrent laryngeal, phrenic, and oculomotor nerves in Charcot-Marie-Tooth disease 4F.eNeurologicalSci · 2021Article
- Article
- Flexible Players within the Sheaths: The Intrinsically Disordered Proteins of Myelin in Health and Disease.Cells · 2020Review
- Novel mutation in the periaxin gene causal to Charcot-Marie-Tooth disease type 4F.The Journal of international medical research · 2020Article
- Article
- Direct Binding of the Flexible C-Terminal Segment of Periaxin to β4 Integrin Suggests a Molecular Basis for CMT4F.Frontiers in molecular neuroscience · 2019Article
- An Exome-wide Association Study for Type 2 Diabetes-Attributed End-Stage Kidney Disease in African Americans.Kidney international reports · 2018Article
- A murine model of Charcot-Marie-Tooth disease 4F reveals a role for the C-terminus of periaxin in the formation and stabilization of Cajal bands.Wellcome open research · 2018Article
- Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.Annals of neurology · 2016Article
- The use of whole-exome sequencing to disentangle complex phenotypes.European journal of human genetics : EJHG · 2016Article
- Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family.Journal of clinical neurology (Seoul, Korea) · 2015Article
- Sequencing of Charcot-Marie-Tooth disease genes in a toxic polyneuropathy.Annals of neurology · 2014Article
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We identified the main features of Charcot-Marie-Tooth (CMT) disease, type 4F, caused by a periaxin gene (PRX) mutation in Japanese patients. Periaxin is known as one of the key myelination molecules, forming tight junction between myelin loop and axon. We collected 427 DNA samples from individuals with CMT or CMT-related neuropathy, negative for PMP22 duplication. We investigated PRX mutations using a purpose-built resequencing array screen during the period 2006-2012. We detected two types of PRX mutations in three patients; one patient showed a novel homozygous p.D651N mutation and the other two showed homozygous p.R1070X mutation. All PRX mutations reported so far have been of nonsense or frameshift type. In this study, we found homozygous missense mutation p.D651N. Aspartate 651 is located in a repeat domain; its position might indicate an important function. PRX mutations usually lead to early-onset, autosomal-recessive demyelinating CMT neuropathy 4F (CMT4F) or Dejerine-Sottas disease; their clinical phenotypes are severe. In our three patients, the onset of the disease was at the age of 27 years or later, and their clinical phenotypes were milder compared with those reported in previous studies. We showed a variation of clinical phenotypes for CMT4F caused by a novel, nonsense PRX mutation.
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