The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter

M. Musso, P. Balestra, E. Bellone, D. Cassandrini, E. Di Maria, L. Lamba Doria, M. Grandis, G. Mancardi, A. Schenone, G. Levi, F. Ajmar, P. Mandich

Research output: Contribution to journalArticlepeer-review


Mutations in the early growth response 2 (EGR2) gene are associated with some forms of Charcot-Marie-Tooth disease (CMT) and other demyelinating neuropathies. These mutations modify the EGR2 binding to specific DNA sequences suggesting a role in the transcriptional control of myelination-specific genes. Here we show that the D355V mutation, associated with a CMT case combining axonal and demyelinating abnormalities, reduces three times the affinity of EGR2 to its consensus sequence and ten times its affinity to a sequence in the human Cx32 promoter. These findings could indicate that this EGR2 mutation leads to the development of CMT1 through the transcriptional deregulation of Cx32 gene.

Original languageEnglish
Pages (from-to)700-706
Number of pages7
JournalNeurobiology of Disease
Issue number4
Publication statusPublished - 2001


  • Charcot-Marie-Tooth disease
  • Cx32
  • EGR2
  • Krox20
  • Myelination

ASJC Scopus subject areas

  • Neurology


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