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., ...More

GENETICS IN MEDICINE, vol.16, no.5, pp.386-394, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 16 Issue: 5
  • Publication Date: 2014
  • Doi Number: 10.1038/gim.2013.155
  • Journal Name: GENETICS IN MEDICINE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.386-394
  • Keywords: 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
  • Istanbul University Affiliated: Yes

Abstract

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.