DKC1 and dyskeratosis congenita: The dyskerin pseudouridine synthase 1 (DKC1) gene was identified mutated in dyskeratosis congenita and encodes the evolutionarily conserved RNA‐binding protein dyskerin.[7, 8] Dyskerin is a component of telomerase ribonucleoprotein that associates with three highly conserved proteins (NOP10, NHP2, and GAR1) and binds directly to telomerase RNA component (TERC) to maintain the telomerase activity.[9, 10] The dyskerin protein complex also participates in forming small nucleolar ribonucleoprotein (snoRNP) complexes, which bind to H/ACA small nucleolar RNAs.