19/07/1402
A de novo TINF2, R282C Mutation in a Case of Dyskeratosis Congenital Founded by Next-Generation Sequencing
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.
Result: 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.
