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TERC encodes the telomerase RNA component which functions as a template for telomere elongation (Feng et al. 1995). The gene is 451 nucleotides in length and is located at 3p26.2 (Feng et al. 1995). Human telomerase is a ribonucleoprotein complex which functions to maintain telomere length during normal cell division through controlled elongation thereby preventing shortening and ensuing cell cycle arrest and cell death (Du et al. 2009). Telomerase has two components: the reverse transcriptase (TERT) and the template RNA component, or TERC. Mono-allelic pathogenic mutations in TERC lead to dyskeratosis congenita, pulmonary fibrosis, and/or bone marrow failure in addition to susceptibilities to cutaneous malignant melanoma and leukemia (Armanios et al. 2005; Calado et al. 2009).
Patients with TERC pathogenic mutations might develop dyskeratosis congenita (DC) (Mitchell et al. 1999). DC is characterized by progressive bone marrow failure, including...