Neurogenetics

, Volume 8, Issue 4, pp 257–262

Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations

Authors

  • Kinga Szigeti
    • Department of Molecular and Human GeneticsBaylor College of Medicine
    • Department of NeurologyBaylor College of Medicine
  • Wojciech Wiszniewski
    • Department of Molecular and Human GeneticsBaylor College of Medicine
  • Gulam Mustafa Saifi
    • Department of Molecular and Human GeneticsBaylor College of Medicine
  • Diane L. Sherman
    • Centre for Neuroscience Research, Department of Veterinary Anatomy & Cell BiologyUniversity of Edinburgh
  • Norbert Sule
    • Department of PathologyBaylor College of Medicine
  • Adekunle M. Adesina
    • Department of PathologyBaylor College of Medicine
  • Pedro Mancias
    • Department of NeurologyUniversity of Texas, Health Sciences Center
  • Sozos Ch. Papasozomenos
    • Department of PathologyUniversity of Texas, Health Sciences Center
  • Geoffrey Miller
    • Department of NeurologyBaylor College of Medicine
  • Laura Keppen
    • Department of Pediatrics and Adolescent MedicineUniversity of South Dakota School of Medicine
  • Donna Daentl
    • Shriners Hospitals for Children Northern California
  • Peter J. Brophy
    • Centre for Neuroscience Research, Department of Veterinary Anatomy & Cell BiologyUniversity of Edinburgh
    • Department of Molecular and Human GeneticsBaylor College of Medicine
    • Department of PediatricsBaylor College of Medicine
    • Program in Cell and Molecular BiologyBaylor College of Medicine
Original Article

DOI: 10.1007/s10048-007-0094-0

Cite this article as:
Szigeti, K., Wiszniewski, W., Saifi, G.M. et al. Neurogenetics (2007) 8: 257. doi:10.1007/s10048-007-0094-0

Abstract

Mutations in the EGR2 gene cause a spectrum of Charcot–Marie–Tooth disease and related inherited peripheral neuropathies. We ascertained ten consecutive patients with various EGR2 mutations, report a novel de novo mutation, and provide longitudinal clinical data to characterize the natural history of the peripheral neuropathy. We confirmed that respiratory compromise and cranial nerve dysfunction are commonly associated with EGR2 mutations and can be useful in guiding molecular diagnosis. We also contrast morphological studies in the context of the I268N homozygous recessive mutation affecting the NAB repressor binding site and the R359W dominant-negative mutation in the zinc-finger domain.

Keywords

EGR2MyelinCMTHSMN

Copyright information

© Springer-Verlag 2007