DKC1, Dyskeratosis Congenita/Hoyeraal-Hreidarsson Syndrome
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DKC1 encodes the dyskerin protein, a member of the human telomerase complex (Mochizuki et al. 2004). The gene is comprised by 15 exons spanning approximately 16 kb, located at Xq28 (Hassock et al. 1999). 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). Hemizygous pathogenic variants in DKC1 lead to dyskeratosis congenita and the Hoyeraal-Hreidarsson syndrome (Knight et al. 1999a, b).
Defects of human telomerase biology lead principally to dyskeratosis congenita (DC) (Mitchell et al. 1999). Patients with DC often present with progressive bone marrow failure and a triad of mucocutaneous findings which includes abnormal skin pigmentation, dystrophic nails, and leukoplakia of the oral mucosa (Dokal 2000). It is important to note that a minority of DC patients present...