The study of patients with autosomal forms of dyskeratosis congenita (DC) has identified mutations in other genes coding for proteins involved in telomere biology, including the dyskerin-associated NOP10 and NHP2 proteins, but also components of the telomerase complex (TERT, TERC) or the shelterin complex (TINF2), among others. Here, TERT is linked to dyskeratosis congenita.