Abstract
BACKGROUND: Dyskeratosis congenita (DC), an inherited and rare disease prevalent in males, is clinically manifested by reticulate hyperpigmentation, nail dystrophy, and leukoplakia. DC is associated with the increased risk of malignancy and other potentially lethal complications such as bone marrow failure, as well as lung and liver diseases. Mutations in 19 genes were found to be correlated with DC. Herein, we report a 12-year-old boy carrying a de novo mutation in TINF2 gene. METHODS: Whole exome sequencing (WES) was performed on DNA sample of the proband, and the variant was investigated in the family by Sanger sequencing. Population and bioinformatics analysis were performed. RESULTS: The NM_ 001099274.3(TINF2): c.844C>T (p.Arg282Cys) mutation was found by WES. CONCLUSION: There was no history of the disease in the family, and the variant was classified as a de novo mutation.