EGR2 mutations: CMT 1D & Other phenotypes

Autosomal DominantAutosomal RecessiveDe NovoDigenicNeuropathy (Hereditary)OMIM 129010

time/hmsn.html#EGR2 mutations: CMT 1D & Other phenotypes

Overview

From WUSTL Neuromuscular

● Genetics Inheritance: May be Dominant or Recessive Mutations > 30 described Types: Missense common Location: Zinc finger binding domain Predicted to alter DNA binding De novo mutations: Common Allelic disorders Dominant CMT 1D: Arg409Trp; Arg359Gln; Asp355Val; Arg381Cys; Arg381His Dejerine-Sottas (de novo): Arg359Trp; E412K Asymptomatic: Symptomatic after Vincristine treatment Recessive AR-CMT2, Late onset Dominant or Recessive Congenital Amyelinating Neuropathy Congenital Hypomyelinating (CHN): I268N; S382R/D383Y; Ile218Asn Digenic: HMSN Protein: Early growth response-2 (Krox-20) Family: Cy