In humans, a homozygous nonsense mutation in FITM2 was identified in a family with Siddiqi syndrome, characterized by deafness–dystonia syndrome, delayed development, and regression of motor skills, dystonia, ichthyosis-like features, signs of sensory neuropathy, and low body mass index (Zazo Seco et al., 2017). This evidence concerns the gene FITM2 and Dystonia.