Telomeropathies, such as Dyskeratosis congenita (DKC), can manifest in the BM, liver, and the lung, and their link with short telomeres can either be related to genetic mutations in hTERT or in genes encoding proteins of the shelterin complex including TRF1, TRF2, TIN2, POT1, TPP1, and RAP1 (Genes Dev. This evidence concerns the gene POT1 and dyskeratosis congenita.