Neurogenetics

, Volume 8, Issue 4, pp 257–262

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

  • Kinga Szigeti
  • Wojciech Wiszniewski
  • Gulam Mustafa Saifi
  • Diane L. Sherman
  • Norbert Sule
  • Adekunle M. Adesina
  • Pedro Mancias
  • Sozos Ch. Papasozomenos
  • Geoffrey Miller
  • Laura Keppen
  • Donna Daentl
  • Peter J. Brophy
  • James R. Lupski
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

Authors and Affiliations

  • Kinga Szigeti
    • 1
    • 4
  • Wojciech Wiszniewski
    • 1
  • Gulam Mustafa Saifi
    • 1
  • Diane L. Sherman
    • 8
  • Norbert Sule
    • 5
  • Adekunle M. Adesina
    • 5
  • Pedro Mancias
    • 2
  • Sozos Ch. Papasozomenos
    • 3
  • Geoffrey Miller
    • 4
  • Laura Keppen
    • 6
  • Donna Daentl
    • 7
  • Peter J. Brophy
    • 8
  • James R. Lupski
    • 1
    • 9
    • 10
  1. 1.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA
  2. 2.Department of NeurologyUniversity of Texas, Health Sciences CenterHoustonUSA
  3. 3.Department of PathologyUniversity of Texas, Health Sciences CenterHoustonUSA
  4. 4.Department of NeurologyBaylor College of MedicineHoustonUSA
  5. 5.Department of PathologyBaylor College of MedicineHoustonUSA
  6. 6.Department of Pediatrics and Adolescent MedicineUniversity of South Dakota School of MedicineSioux FallsUSA
  7. 7.Shriners Hospitals for Children Northern CaliforniaSacramentoUSA
  8. 8.Centre for Neuroscience Research, Department of Veterinary Anatomy & Cell BiologyUniversity of EdinburghEdinburghUK
  9. 9.Department of PediatricsBaylor College of MedicineHoustonUSA
  10. 10.Program in Cell and Molecular BiologyBaylor College of MedicineHoustonUSA