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., ...Daha Fazla

GENETICS IN MEDICINE, cilt.18, sa.5, ss.443-451, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 18 Sayı: 5
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1038/gim.2015.124
  • Dergi Adı: GENETICS IN MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.443-451
  • İstanbul Üniversitesi Adresli: Evet

Özet

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.