Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
Pediatric Cell and Gene Therapy Research Center, Gene, Cell & Tissue Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Iran Biomed J. 2023 Mar 1;27(2 & 3):146-51. doi: 10.61186/ibj.3783.
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.
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.
The NM_ 001099274.3(TINF2): c.844C>T (p.Arg282Cys) mutation was found by WES.
There was no history of the disease in the family, and the variant was classified as a de novo mutation.
先天性角化不良（DC）是一种遗传性罕见疾病，多见于男性，临床特征为网状色素沉着、指甲营养不良和口腔白斑。DC 与恶性肿瘤风险增加以及其他潜在致命并发症相关，如骨髓衰竭以及肺部和肝脏疾病。19 个基因的突变与 DC 相关。本文报道了一例携带 TINF2 基因突变的 12 岁男孩。
对先证者的 DNA 样本进行全外显子组测序（WES），并通过 Sanger 测序对家系中的变异进行研究。进行人群和生物信息学分析。
通过 WES 发现 NM_001099274.3(TINF2):c.844C>T(p.Arg282Cys) 突变。
家系中无该疾病史，该变异被归类为新生突变。
