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

Research output: Contribution to journalArticlepeer-review

40 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)257-262
Number of pages6
Issue number4
StatePublished - Nov 2007
Externally publishedYes


  • CMT
  • EGR2
  • HSMN
  • Myelin

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Cellular and Molecular Neuroscience


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