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Papers: 5 Sep 2020 - 11 Sep 2020

Human Studies

2020 Sep 08

Eur J Neurol

Bi-allelic mutations in EGR2 cause autosomal recessive demyelinating neuropathy by disrupting the EGR2-NAB complex.


Lupo V, Won S, Frasquet M, Schnitzler MS, Komath SS, Pascual-Pascual SI, Espinós C, Svaren J, Sevilla T
Eur J Neurol. 2020 Sep 08.
PMID: 32896048.


Mutations in the early growth response 2 gene (EGR2) cause demyelinating, but also axonal, neuropathies differing in severity and age of onset. Except for one family, all reported cases have autosomal dominant inheritance and mutations are localized within the three zinc-finger (ZNF) DNA-binding domain.