In a study to identify genetic variants underlying tylosis, Blaydon et al. used targeted capture array and next-generation sequencing and identified two heterozygous missense mutations in the RHBDF2 gene that underlie tylosis, p.Ile186Thr and p.Pro189Leu (Blaydon et al., 2012). The gene discussed is RHBDF2; the disease is Non-epidermolytic palmoplantar keratoderma.