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Copy number variations (CNVs) are important in relation to diversity and evolution but can sometimes cause disease. The most common genetic cause of the inherited peripheral neuropathy Charcot-Marie-Tooth disease is the  PMP22  duplication; otherwise, CNVs have been considered rare. We investigated CNVs in a population-based sample of Charcot-Marie-Tooth (CMT) families. The 81 CMT families had previously been screened for the  PMP22  duplication and point mutations in 51 peripheral neuropathy genes, and a genetic cause was identified in 37 CMT families (46%). Index patients from the 44 CMT families with an unknown genetic diagnosis were analysed by whole-genome array comparative genomic hybridization to investigate the entire genome for larger CNVs and multiplex ligation-dependent probe amplification to detect smaller intragenomic CNVs in  MFN2  and  MPZ . One patient had the pathogenic  PMP22  duplication not detected by previous methods. Three patients had potentially pathogenic CNVs in the  CNTNAP2 ,  LAMA2 , or  SEMA5A , that is, genes related to neuromuscular or neurodevelopmental disease. Genotype and phenotype correlation indicated likely pathogenicity for the  LAMA2  CNV, whereas the  CNTNAP2  and  SEMA5A  CNVs remained potentially pathogenic. Except the  PMP22  duplication, disease causing CNVs are rare but may cause CMT in about 1% (95% CI 0–7%) of the Norwegian CMT families.

Copy Number Variations in a Population-Based Study of Charcot-Marie-Tooth Disease