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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.

The early growth response 2 gene (EGR2) is part of a multigene family encoding Cys2His2 type zinc-finger proteins and may play a role in the regulation of cellular proliferation. Egr2, (also known as Krox20) is the mouse orthologue of human EGR2 and was first identified as an immediate-early response gene, encoding a protein that binds DNA in a sequence-specific manner and acts as a transcription factor. Stable expression of Egr2 is specifically associated with the onset of myelination in the peripheral nervous system (PNS). Egr2(-/-) mice display disrupted hindbrain segmentation and development, and a block of Schwann-cell differentiation at an early stage. We hypothesized that Egr2 may be a transcription factor affecting late myelin genes and that human myelinopathies of the PNS may result from mutations in EGR2. In support of this hypothesis, we have identified one recessive and two dominant missense mutations in EGR2 (within regions encoding conserved functional domains) in patients with congenital hypomyelinating neuropathy (CHN) and a family with Charcot-Marie-Tooth type 1 (CMT1).[1]


  1. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Warner, L.E., Mancias, P., Butler, I.J., McDonald, C.M., Keppen, L., Koob, K.G., Lupski, J.R. Nat. Genet. (1998) [Pubmed]
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