Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations
- 24 August 2007
- journal article
- case report
- Published by Springer Nature in neurogenetics
- Vol. 8 (4) , 257-262
- https://doi.org/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
This publication has 23 references indexed in Scilit:
- Neuropathy-Associated Egr2 Mutants Disrupt Cooperative Activation of Myelin Protein Zero by Egr2 and Sox10Molecular and Cellular Biology, 2007
- Peripheral Myelin Maintenance Is a Dynamic Process Requiring ConstantKrox20ExpressionJournal of Neuroscience, 2006
- Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosisNeuromuscular Disorders, 2005
- Mechanisms of axon ensheathment and myelin growthNature Reviews Neuroscience, 2005
- Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutationsNature Genetics, 2004
- Screening of the early growth response 2 gene in Japanese patients with Charcot–Marie–Tooth disease type 1Journal of the Neurological Sciences, 2003
- Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathiesJournal of Medical Genetics, 2002
- A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot–Marie–Tooth disease type 1Journal of the Neurological Sciences, 2001
- Krox-20 controls myelination in the peripheral nervous systemNature, 1994
- Disruption of Krox-20 results in alteration of rhombomeres 3 and 5 in the developing hindbrainCell, 1993