A novel DKC1 gene mutation c.1177 A>T (p.I393F) in a case of dyskeratosis congenita with severe telomere shortening.

Dyskeratosis congenita (DC) is an inherited, progressive bone marrow failure (BMF) and cancer predisposition syndrome with a prevalence of one in 1,000,000 people. In this report, we present a case of a young male patient harboring a novel mutation in the I DKC1 i gene and manifesting the classical clinical triad of DC and BMF. Dyskeratosis congenita is an inherited multisystem bone marrow failure syndrome associated with very high risk of developing aplastic anemia, MDS, leukemia, and solid tumors. In summary, the novel variant identified herein, the DKC1 gene, provides scientific evidence for the genotype-phenotype correlation of DC and has important implications for the clinical and molecular characterization of the disease. [Extracted from the article]