Neurogenetics

, Volume 3, Issue 3, pp 153–157

EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy

Authors

  • Cornelius F. Boerkoel
    • Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 609E, Houston, Texas 77030
  • Hiroshi Takashima
    • Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 609E, Houston, Texas 77030
  • Carlos A. Bacino
    • Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 609E, Houston, Texas 77030
  • Donna Daentl
    • Shriners Hospital of Northern California, 2425 Stockton Boulevard, Sacramento, California 95817
  • James R. Lupski
    • Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 609E, Houston, Texas 77030
Original Article

DOI: 10.1007/s100480100107

Cite this article as:
Boerkoel, C.F., Takashima, H., Bacino, C.A. et al. Neurogenetics (2001) 3: 153. doi:10.1007/s100480100107

Abstract.

Heterozygous mutations in the early growth response gene 2 (EGR2), which encodes a zinc-finger transcription factor that regulates the late stages of myelination, cause myelinopathies including congenital hypomyelinating neuropathy, Dejerine-Sottas neuropathy (DSN), and Charcot-Marie-Tooth disease type 1. We screened 170 unrelated neuropathy patients without mutations involving the peripheral myelin protein 22 gene (PMP22), the myelin protein zero gene (MPZ), or the gap junction protein ß1 gene (GJB1) and identified two DSN patients with the heterozygous mutation R359W in the α-helix domain of the first zinc-finger of EGR2. We now report that this mutation is a recurrent cause of DSN, and that expressivity ranges from that typical for DSN to a more rapidly progressive neuropathy that can cause death by age 6 years. Furthermore, in contrast to patients with typical DSN, patients with the EGR2 R359W mutation have more respiratory compromise and cranial nerve involvement.

Transcription factor mutations Inherited neuropathy Recurrent mutation Facial nerve palsy

Copyright information

© Springer-Verlag 2001