Abstract
Mutations in the gene coding for the Schwann cell transcription factor early growth response 2 (EGR2), which seems to regulate myelinogenesis and hindbrain development, have been observed in few cases of inherited neuropathy. The authors describe a unique combination of cranial nerve deficits in one member of a Charcot-Marie-Tooth 1 family carrying an EGR2 mutation (Arg381His). This finding further supports the role of EGR2 in cranial nerve development.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Aged
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Charcot-Marie-Tooth Disease / complications*
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Cranial Nerve Diseases / genetics*
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DNA-Binding Proteins / genetics*
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Early Growth Response Protein 2
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Evoked Potentials, Auditory, Brain Stem
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Female
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Hearing Loss, Sensorineural / etiology
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Heterozygote
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Humans
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Magnetic Resonance Imaging
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Male
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Mutation, Missense*
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Nerve Fibers, Myelinated / pathology
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Neural Conduction
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Sural Nerve / pathology
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Transcription Factors / genetics*
Substances
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DNA-Binding Proteins
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EGR2 protein, human
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Early Growth Response Protein 2
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Transcription Factors