ArticleEuropean journal of human genetics : EJHG2010
Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 89 citations in OpenAlex.
- From prenatal detection to postnatal evaluation: a retrospective observational ultrasound study of patent urachus with allantoic cyst.BMC pregnancy and childbirth · 2025Observational
- Review
- Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.Brain : a journal of neurology · 2023Article
- Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves.Human molecular genetics · 2020Article
- Regulating PMP22 expression as a dosage sensitive neuropathy gene.Brain research · 2020Review
- Regulation of the neuropathy-associated Pmp22 gene by a distal super-enhancer.Human molecular genetics · 2018Article
- Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.Molecular genetics & genomic medicine · 2018Review
- Perspective: DNA Copy Number Variations in Cardiovascular Diseases.Epigenetics insights · 2018Review
- Major influence of repetitive elements on disease-associated copy number variants (CNVs).Human genomics · 2016Review
- Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development.Human molecular genetics · 2016Article
- Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.PLoS genetics · 2016Article
- Non-coding genetic variants in human disease.Human molecular genetics · 2015Review
- Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.Cell reports · 2015Article
- Genome editing-enabled HTS assays expand drug target pathways for Charcot-Marie-tooth disease.ACS chemical biology · 2014Article
- Rare autosomal copy number variations in early-onset familial Alzheimer's disease.Molecular psychiatry · 2014Article
- PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.Orphanet journal of rare diseases · 2014Review
- The PMP22 gene and its related diseases.Molecular neurobiology · 2013Review
- High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.Clinical genetics · 2013Article
- Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22.Human molecular genetics · 2012Article
- A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.Human molecular genetics · 2012Article
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In several individuals with a Charcot-Marie-Tooth (CMT) phenotype, we found a copy number variation (CNV) on chromosome 17p12 in the direct vicinity of the peripheral myelin protein 22 (PMP22) gene. The exact borders and size of this CNV were determined by Southern blot analysis, MLPA, vectorette PCR, and microarray hybridization analyses. All patients from six apparently unrelated families carried an identical 186-kb duplication different from the commonly reported 1.5-Mb duplication associated with CMT1A. This ancestral mutation that was not reported in the human structural variation database was only detected in affected individuals and family members. It was absent in 2124 control chromosomes and 40 patients with a chronic inflammatory demyelinating polyneuropathy (CIDP) and therefore should be regarded as causative for the disease. This variant escapes most routine diagnostic screens for CMT1A, because copy numbers of PMP22 probes were all normal. No indications were found for the involvement of the genes that are located within this duplication. A possible association of this duplication with a mutation in the PMP22 coding regions was also excluded. We suggest that this CNV proximal of the PMP22 gene leads to CMT through an unknown mechanism affecting PMP22 expression.
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