Several heterozygous mutations in human ELOVL4 have been identified that cause autosomal dominant spinocerebellar ataxia (type 34; SCA34) and/or erythrokeratodermia variabilis (EKV) with no significant retinal phenotype (Cadieux-Dion et al., 2014; Bourassa et al., 2015; Ozaki et al., 2015). Here, ELOVL4 is linked to erythrokeratodermia variabilis.