The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy

Pehlivan D. , Beck C. R. , Okamoto Y., Harel T., Akdemir Z. H. C. , Jhangiani S. N. , ...More

GENETICS IN MEDICINE, vol.18, no.5, pp.443-451, 2016 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 5
  • Publication Date: 2016
  • Doi Number: 10.1038/gim.2015.124
  • Title of Journal : GENETICS IN MEDICINE
  • Page Numbers: pp.443-451


Purpose: Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of genetic disorders of the peripheral nervous system. Copy-number variants (CNVs) contribute significantly to CMT, as duplication of PMP22 underlies the majority of CMT1 cases. We hypothesized that CNVs and/or single-nucleotide variants (SNVs) might exist in patients with CMT with an unknown molecular genetic etiology.