Original Article

Neurogenetics

, Volume 8, Issue 4, pp 257-262

First online:

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

  • Kinga SzigetiAffiliated withDepartment of Molecular and Human Genetics, Baylor College of MedicineDepartment of Neurology, Baylor College of Medicine
  • , Wojciech WiszniewskiAffiliated withDepartment of Molecular and Human Genetics, Baylor College of Medicine
  • , Gulam Mustafa SaifiAffiliated withDepartment of Molecular and Human Genetics, Baylor College of Medicine
  • , Diane L. ShermanAffiliated withCentre for Neuroscience Research, Department of Veterinary Anatomy & Cell Biology, University of Edinburgh
  • , Norbert SuleAffiliated withDepartment of Pathology, Baylor College of Medicine
  • , Adekunle M. AdesinaAffiliated withDepartment of Pathology, Baylor College of Medicine
  • , Pedro ManciasAffiliated withDepartment of Neurology, University of Texas, Health Sciences Center
  • , Sozos Ch. PapasozomenosAffiliated withDepartment of Pathology, University of Texas, Health Sciences Center
  • , Geoffrey MillerAffiliated withDepartment of Neurology, Baylor College of Medicine
    • , Laura KeppenAffiliated withDepartment of Pediatrics and Adolescent Medicine, University of South Dakota School of Medicine
    • , Donna DaentlAffiliated withShriners Hospitals for Children Northern California
    • , Peter J. BrophyAffiliated withCentre for Neuroscience Research, Department of Veterinary Anatomy & Cell Biology, University of Edinburgh
    • , James R. LupskiAffiliated withDepartment of Molecular and Human Genetics, Baylor College of MedicineDepartment of Pediatrics, Baylor College of MedicineProgram in Cell and Molecular Biology, Baylor College of Medicine Email author 

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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

EGR2 Myelin CMT HSMN