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论文题目: Von Hippel-Lindau disease type 2 in a Chinese family with a VHL p.W88X truncation
英文论文题目: Von Hippel-Lindau disease type 2 in a Chinese family with a VHL p.W88X truncation
第一作者: Zhang, M; Wang, J; Jiang, JJ; Zhan, XH; Ling, Y; Lu, ZQ; Guo, JM; Gao, X
英文第一作者: Zhang, M; Wang, J; Jiang, JJ; Zhan, XH; Ling, Y; Lu, ZQ; Guo, JM; Gao, X
联系作者: Jiang, JJ (reprint author), Fudan Univ, Zhongshan Hosp, Dept Endocrinol & Metab, Shanghai 200433, Peoples R China.
英文联系作者: Jiang, JJ (reprint author), Fudan Univ, Zhongshan Hosp, Dept Endocrinol & Metab, Shanghai 200433, Peoples R China.
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发表年度: 2015
卷: 48
期: 1
页码: 83-88
摘要: Von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome caused by germline mutations in the synonymous VHL gene encoding a tumor suppressor. Affected individuals are susceptible to various benign and malignant tumors. Based on the phenotypes, VHL disease is classified as type 1 and type 2. Here, we describe a Chinese family diagnosed as VHL disease type 2, with different metabolic status of tumors on FDG PET-CT. Genetic analysis revealed a germline c.264G > A point mutation, resulting in premature termination at codon 88 (p.W88X). This pedigree represents a rare link between p.W88X nonsense mutation (genotype) and VHL disease type 2 (phenotype), which has not been previously described. This is also the first nonsense mutation to manifest as VHL disease type 2 in ethnic Chinese. We also reviewed the literature and provided an outline of mutations associated with VHL disease in China.
英文摘要: Von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome caused by germline mutations in the synonymous VHL gene encoding a tumor suppressor. Affected individuals are susceptible to various benign and malignant tumors. Based on the phenotypes, VHL disease is classified as type 1 and type 2. Here, we describe a Chinese family diagnosed as VHL disease type 2, with different metabolic status of tumors on FDG PET-CT. Genetic analysis revealed a germline c.264G > A point mutation, resulting in premature termination at codon 88 (p.W88X). This pedigree represents a rare link between p.W88X nonsense mutation (genotype) and VHL disease type 2 (phenotype), which has not been previously described. This is also the first nonsense mutation to manifest as VHL disease type 2 in ethnic Chinese. We also reviewed the literature and provided an outline of mutations associated with VHL disease in China.
刊物名称: ENDOCRINE
英文刊物名称: ENDOCRINE
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学科: Endocrinology & Metabolism
英文学科: Endocrinology & Metabolism
影响因子: 3.878
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论文类别: Article
英文论文类别: Article
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