OR52E2 encodes an olfactory receptor with odorant receptor activity localized to the plasma membrane. Based on limited published evidence, a missense variant (p.Ile300Phe) in OR52E2 was identified in a Japanese family with autosomal dominant distal hereditary motor neuropathy through whole-exome sequencing 1. However, this variant was not concluded to be the causative mutation, as functional characterization in motor neuropathy pathogenesis remains lacking.