Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

OKAMOTO Y., Goksungur M. T., Pehlivan D., BECK C. R., GONZAGA-JAUREGUI C., MUZNY D. M., ...Daha Fazla

GENETICS IN MEDICINE, cilt.16, sa.5, ss.386-394, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 16 Sayı: 5
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1038/gim.2013.155
  • Dergi Adı: GENETICS IN MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.386-394
  • Anahtar Kelimeler: autosomal recessive, Charcot-Marie-Tooth disease, CMT4D, CNV, NDRG1, MARIE-TOOTH-DISEASE, SENSORY NEUROPATHY, HEREDITARY MOTOR, DEMYELINATING NEUROPATHY, GENOMIC REARRANGEMENTS, MUTATION, GENE, LOM, MECHANISM, FREQUENCY
  • İstanbul Üniversitesi Adresli: Evet

Özet

Purpose: Copy-number variations as a mutational mechanism contribute significantly to human disease. Approximately one-half of the patients with Charcot-Marie-Tooth (CMT) disease have a 1.4Mb duplication copy-number variation as the cause of their neuropathy. However, non-CMTIA neuropathy patients rarely have causative copy-number variations, and to date, autosomal-recessive CMT disease has not been associated with copy-number Variation as a mutational mechanism.