The early growth response element 2 gene (EGR2) codes a transcription factor crucial for myelination.1EGR2 mutations cause demyelinating Charcot–Marie–Tooth disease type 1D (CMT1D), Dejerine–Sottas disease (DSD), and congenital hypomyelinating neuropathy (CHN).2–5 EGR2 accounts for a minority of CMT cases. Most have early onset and severe phenotypes6 and are occasionally associated with cranial nerve involvement.7 We report a young woman with apparently sporadic adult-onset CMT1D caused by an EGR2 Arg381Cys mutation.
Adult onset Charcot-Marie-Tooth disease type 1D with an Arg381Cys mutation of EGR2.
BRIANI, CHIARA;LUCCHETTA, MARTA;
2010
Abstract
The early growth response element 2 gene (EGR2) codes a transcription factor crucial for myelination.1EGR2 mutations cause demyelinating Charcot–Marie–Tooth disease type 1D (CMT1D), Dejerine–Sottas disease (DSD), and congenital hypomyelinating neuropathy (CHN).2–5 EGR2 accounts for a minority of CMT cases. Most have early onset and severe phenotypes6 and are occasionally associated with cranial nerve involvement.7 We report a young woman with apparently sporadic adult-onset CMT1D caused by an EGR2 Arg381Cys mutation.
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