Iranian Biomedical Journal

en A de novo TINF2, R282C Mutation in a Case of Dyskeratosis Congenital Founded by Next-Generation Sequencing Medical Biotechnology Medical Biotechnology مقاله موردی Case Report <div style="text-align: justify;">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. <div style="text-align: justify;"></div></div> Dyskeratosis congenita, Exome sequencing, Missense mutation, TINF2 146 151 http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-5034-1&slc_lang=en&sid=1 Motahareh Khakzad mkh384@gmail.com 0000-0002-8443-7554 No Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran Zahra Shahbazi zahra.shahbazipst@gmail.com 0000-0002-5831-2918 No Pediatric Cell and Gene Therapy Research Center, Gene, Cell & Tissue Research Institute, Tehran University of Medical Sciences, Tehran, Iran Majid Naderi majid_naderi2000@yahoo.com 0000-0002-4566-8202 No Ali Ebne Abitaleb Hospital, School of Medicine, University of Medical Sciences, Zahedan, Iran Morteza Karimipoor mortezakarimi@yahoo.com 0000-0002-2513-7674 Yes Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran