Novel EGR2 variant that associates with Charcot-Marie-Tooth disease when combined with lipopolysaccharide-induced TNF-α factor T49M polymorphism.

Objective: To identify novel genetic mechanisms causing Charcot-Marie-Tooth (CMT) disease.

Methods: We performed a next-generation sequencing study of 34 genes associated with CMT in a patient with peripheral neuropathy.

Results: We found a non-previously described mutation in EGR2 (p.