文献详情
Intra-Familial Phenotypic Heterogeneity and Telomere Abnormality in von Hippel- Lindau Disease: Implications for Personalized Surveillance Plan and Pathogenesis of VHL-Associated Tumors
文献类型：期刊
期刊名称：Frontiers in genetics
年：2019
卷：10
页码：358
ISSN：1664-8021
关键词：birth order effect,genetic anticipation,phenotypic heterogeneity,telomere length,von Hippel-Lindau disease
所属部门：统计学院
摘要：von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome with poor survival. The current recommendations have proposed uniform surveillance strategies for all patients, neglecting the obvious phenotypic varieties. In this study, we aim to confirm the phenotypic heterogeneity in VHL disease and the underlying mechanism. A total of 151 parent-child pairs were enrolled for genetic anticipation analysis, and 77 sibling pairs for birth order effect analysis. Four statistical methods were used ...More
von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome with poor survival. The current recommendations have proposed uniform surveillance strategies for all patients, neglecting the obvious phenotypic varieties. In this study, we aim to confirm the phenotypic heterogeneity in VHL disease and the underlying mechanism. A total of 151 parent-child pairs were enrolled for genetic anticipation analysis, and 77 sibling pairs for birth order effect analysis. Four statistical methods were used to compare the onset age of patients among different generations and different birth orders. The results showed that the average onset age was 18.9 years earlier in children than in their parents, which was statistically significant in all of the four statistical methods. Furthermore, the first-born siblings were affected 8.3 years later than the other ones among the maternal patients. Telomere shortening was confirmed to be associated with genetic anticipation in VHL families, while it failed to explain the birth order effect. Moreover, no significant difference was observed for overall survival between parents and children (p = 0.834) and between first-born patients and the other siblings (p = 0.390). This study provides definitive evidence and possible mechanisms of intra-familial phenotypic heterogeneity in VHL families, which is helpful to the update of surveillance guidelines. ...Hide

DOI：10.3389/fgene.2019.00358
百度学术：Intra-Familial Phenotypic Heterogeneity and Telomere Abnormality in von Hippel- Lindau Disease: Implications for Personalized Surveillance Plan and Pathogenesis of VHL-Associated Tumors
语言：外文
人气指数：2
浏览次数：2
作者其他论文



Association rules analysis for exploring combined medication characteristics of Fufang Kushen injection: real-world study based on 49 597 cases.Zhang Yin, Xie Yan-Ming, Li Yan-Nan, et al. .Zhongguo Zhong yao za zhi. 2017, 42(15), 2900-2904.
Clinical application features of Fufang Kushen injection in treating malignant esophageal tumor： real world study based on hospital information system.Liu Ya-Xin, Wang Zhi-Fei, Xie Yan-Ming, et al. .Zhongguo Zhong yao za zhi. 2017, 42(15), 2877-2882.
Hierarchical and Complex System Entropy Clustering Analysis Based Validation for Traditional Chinese Medicine Syndrome Patterns of Chronic Atrophic Gastritis..JOURNAL OF ALTERNATIVE AND COMPLEMENTARY MEDICINE. 0.