{"title":"通过下一代测序发现一例先天性角化不良患者的 TINF2 R282C 基因突变。","authors":"Motahareh Khakzad, Zahra Shahbazi, Majid Naderi, Morteza Karimipoor","doi":"10.61186/ibj.3783","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>The NM_ 001099274.3(TINF2): c.844C>T (p.Arg282Cys) mutation was found by WES.</p><p><strong>Conclusion: </strong>There was no history of the disease in the family, and the variant was classified as a de novo mutation.</p>","PeriodicalId":14500,"journal":{"name":"Iranian Biomedical Journal","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10314759/pdf/","citationCount":"0","resultStr":"{\"title\":\"A de novo TINF2, R282C Mutation in a Case of Dyskeratosis Congenital Founded by Next-Generation Sequencing.\",\"authors\":\"Motahareh Khakzad, Zahra Shahbazi, Majid Naderi, Morteza Karimipoor\",\"doi\":\"10.61186/ibj.3783\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>The NM_ 001099274.3(TINF2): c.844C>T (p.Arg282Cys) mutation was found by WES.</p><p><strong>Conclusion: </strong>There was no history of the disease in the family, and the variant was classified as a de novo mutation.</p>\",\"PeriodicalId\":14500,\"journal\":{\"name\":\"Iranian Biomedical Journal\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10314759/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Iranian Biomedical Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.61186/ibj.3783\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"Biochemistry, Genetics and Molecular Biology\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Iranian Biomedical Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.61186/ibj.3783","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"Biochemistry, Genetics and Molecular Biology","Score":null,"Total":0}
引用次数: 0
摘要
背景：先天性角化不良症（DC）是一种遗传性罕见疾病，好发于男性，临床表现为网状色素沉着、甲营养不良和白斑病。先天性红斑狼疮与恶性肿瘤和其他潜在致命并发症（如骨髓衰竭）以及肺部和肝脏疾病的风险增加有关。研究发现，19 个基因的突变与 DC 相关。在此，我们报告了一名携带 TINF2 基因新突变的 12 岁男孩：方法：对病例的 DNA 样本进行了全外显子组测序（WES），并通过 Sanger 测序对家族中的变异基因进行了调查。结果：NM_ 00109927基因的变异在家族中进行了调查，并进行了群体分析和生物信息学分析：结果：通过 WES 发现了 NM_ 001099274.3(TINF2)：c.844C>T (p.Arg282Cys) 突变：结论：该家族无病史，该变异被归类为新发变异。
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.
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.
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