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Iranian Biomedical Journal، جلد ۲۷، شماره ۲، صفحات ۱۴۶-۱۵۱
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عنوان انگلیسی A de novo TINF2, R282C Mutation in a Case of Dyskeratosis Congenital Founded by Next-Generation Sequencing
چکیده انگلیسی مقاله
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.
کلیدواژه‌های انگلیسی مقاله Dyskeratosis congenita, Exome sequencing, Missense mutation, TINF2
نویسندگان مقاله | Motahareh Khakzad
Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran


| Zahra Shahbazi
Pediatric Cell and Gene Therapy Research Center, Gene, Cell & Tissue Research Institute, Tehran University of Medical Sciences, Tehran, Iran


| Majid Naderi
Ali Ebne Abitaleb Hospital, School of Medicine, University of Medical Sciences, Zahedan, Iran


| Morteza Karimipoor
Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran
نشانی اینترنتی http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-5034-1&slc_lang=en&sid=1
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کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده Medical Biotechnology
نوع مقاله منتشر شده مقاله موردی
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