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 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 5
  • Publication Date: 2016
  • Doi Number: 10.1038/gim.2015.124
  • Journal Name: GENETICS IN MEDICINE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.443-451
  • Istanbul University Affiliated: Yes

Abstract

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.