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.
MeSH terms
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Amino Acid Sequence
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Base Sequence
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Binding Sites / genetics
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Charcot-Marie-Tooth Disease / genetics
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Charcot-Marie-Tooth Disease / pathology
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Charcot-Marie-Tooth Disease / physiopathology
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Child, Preschool
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DNA / genetics
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Early Growth Response Protein 2 / chemistry
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Early Growth Response Protein 2 / genetics*
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Genes, Dominant
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Genes, Recessive
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Hereditary Sensory and Motor Neuropathy / genetics*
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Hereditary Sensory and Motor Neuropathy / pathology*
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Hereditary Sensory and Motor Neuropathy / physiopathology
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Homozygote
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Humans
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Infant
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Infant, Newborn
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Longitudinal Studies
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Molecular Sequence Data
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Mutation*
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Mutation, Missense
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Nerve Fibers, Myelinated / pathology
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Nerve Fibers, Myelinated / physiology
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Phenotype
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Point Mutation
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Sequence Homology, Amino Acid
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Zinc Fingers / genetics
Substances
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EGR2 protein, human
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Early Growth Response Protein 2
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DNA