While most reported ATP7A-related dHMN cases have involved missense variants (five of six families) and only one late-truncating variant, the brothers in this report were found to have a novel splice-site variant (NM_000052.7:c.1544-2A>T), thereby expanding the known mutational spectrum associated with the overlapping OHS/dHMN phenotype. Here, ATP7A is linked to distal hereditary motor neuropathy.