Aliases: CMT1F, CMT2E, NF-L, NF68, NFL
Chromosome No: 8
Chromosome Band: 8p21
Genetic Category: Genetic association/functional
# of Autism Reports: 1
# of Highly Cited Reports: 0
# of Recent Reports: 0
Relevance to Autism
NEFL showed consistently reduced expression in three brain regions (anterior cingulate gyrus, motor cortex, and thalamus) following gene expression analysis of postmortem brain tissue of autism patients. NEFL also showed genetic association with autism in Caucasian families (P=0.038; Z-score 2.066) (Anitha et al., 2012).
Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. Defects in NEFL are the cause of Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734] and Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684].