冯·希佩尔-林道病：一项遗传学研究。
Von Hippel-Lindau disease: a genetic study.
作者信息
Maher E R, Iselius L, Yates J R, Littler M, Benjamin C, Harris R, Sampson J, Williams A, Ferguson-Smith M A, Morton N
机构信息
Cambridge University, Department of Pathology.
出版信息
J Med Genet. 1991 Jul;28(7):443-7. doi: 10.1136/jmg.28.7.443.
Abstract
Genetic aspects of von Hippel-Lindau (VHL) disease were studied in familial and isolated cases. Complex segregation analysis with pointers was performed in 38 kindreds with two or more affected members. Dominant inheritance with almost complete penetrance in the highest age classes (0.96 at 51 to 60 and 0.99 at 61 to 70 years) was confirmed and there was no evidence of heterogeneity between families ascertained through complete and incomplete selection. The point prevalence of heterozygotes in East Anglia was 1.89/100,000 (1/53,000) persons with an estimated birth incidence of 2.73/100,000 (1/36,000) live births. Reproductive fitness was 0.83. Direct and indirect estimates of the mutation rate were 4.4 (95% CI 0.9 to 7.9) x 10(-6)/gene/generation and 2.32 x 10(-6)/gene/generation respectively. There was no significant association between parental age or birth order and new mutations for VHL disease.
摘要
对家族性和散发性冯·希佩尔-林道（VHL）病的遗传因素进行了研究。对38个有两名或更多患病成员的家族进行了带指针的复杂分离分析。证实了显性遗传，在最高年龄组中几乎完全显性（51至60岁时为0.96，61至70岁时为0.99），并且没有证据表明通过完全和不完全选择确定的家族之间存在异质性。东安格利亚杂合子的点患病率为1.89/100,000（1/53,000）人，估计出生发病率为2.73/100,000（1/36,000）活产。生殖适合度为0.83。突变率的直接和间接估计分别为4.4（95%可信区间0.9至7.9）×10⁻⁶/基因/代和2.32×10⁻⁶/基因/代。VHL病的亲代年龄或出生顺序与新突变之间没有显著关联。
相似文献
1
Von Hippel-Lindau disease: a genetic study.冯·希佩尔-林道病：一项遗传学研究。
J Med Genet. 1991 Jul;28(7):443-7. doi: 10.1136/jmg.28.7.443.
2
A genetic register for von Hippel-Lindau disease.冯·希佩尔-林道病的基因登记册。
J Med Genet. 1996 Feb;33(2):120-7. doi: 10.1136/jmg.33.2.120.
3
Prevalence, birth incidence, and penetrance of von Hippel-Lindau disease (vHL) in Denmark.丹麦冯·希佩尔-林道病（vHL）的患病率、出生发病率及外显率
Eur J Hum Genet. 2017 Feb;25(3):301-307. doi: 10.1038/ejhg.2016.173. Epub 2016 Dec 14.
4
von Hippel-Lindau disease: Diagnosis and factors influencing disease outcome.冯·希佩尔-林道病：诊断及影响疾病转归的因素
Dan Med J. 2018 Mar;65(3).
5
Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene.保加利亚冯·希佩尔-林道综合征（VHL）的分子遗传学诊断：VHL基因中的首例复杂突变事件
Int J Neurosci. 2018 Feb;128(2):117-124. doi: 10.1080/00207454.2017.1372436. Epub 2017 Sep 13.
6
The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.VHL基因分子遗传学分析对中枢神经系统血管母细胞瘤患者的影响。
J Neurol Neurosurg Psychiatry. 1999 Dec;67(6):758-62. doi: 10.1136/jnnp.67.6.758.
7
Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.冯·希佩尔-林道病的表型表达：与种系VHL基因突变的相关性
J Med Genet. 1996 Apr;33(4):328-32. doi: 10.1136/jmg.33.4.328.
8
[Endolymphatic sac tumor with von Hippel-Lindau disease: report of two cases with testing of von Hippel-Lindau gene].[伴冯·希佩尔-林道病的内淋巴囊肿瘤：两例冯·希佩尔-林道基因检测报告]
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2013 Nov;48(11):913-8.
9
Genetic study of a large Chinese kindred with von Hippel-Lindau disease.对一个患有希佩尔-林道病的大型中国家系的遗传学研究。
Chin Med J (Engl). 2004 Apr;117(4):552-7.
10
Clinical and molecular features of familial and sporadic cases of von Hippel-Lindau disease from Mexico.墨西哥家族性和散发性 von Hippel-Lindau 病的临床和分子特征。
Clin Exp Ophthalmol. 2010 Apr;38(3):277-83. doi: 10.1111/j.1442-9071.2010.02241.x.
引用本文的文献
1
Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) Disease.冯·希佩尔-林道（VHL）病的ACMG/AMP规范制定中的多平台管理
medRxiv. 2025 Aug 27:2025.08.25.25334371. doi: 10.1101/2025.08.25.25334371.
2
Risk Analysis of Retinal Hemangioblastomas in Nonadvanced Stages of von Hippel-Lindau Syndrome Using Ultra-widefield Imaging: The ULTRA von Hippel-Lindau Study.使用超广角成像技术对冯·希佩尔-林道综合征非晚期视网膜血管母细胞瘤的风险分析：ULTRA冯·希佩尔-林道研究
Ophthalmol Sci. 2025 Jun 9;5(6):100846. doi: 10.1016/j.xops.2025.100846. eCollection 2025 Nov-Dec.
3
Advancing the Landscape of Clinical Actionability in Von Hippel-Lindau Syndrome: An Evidence-Based Framework from the INTGRATE Oncology Consortium.推进冯·希佩尔-林道综合征临床可操作性的发展：来自INTGRATE肿瘤学联盟的循证框架。
Cancers (Basel). 2025 Jun 27;17(13):2173. doi: 10.3390/cancers17132173.
4
Pseudohypoxia caused by germline genetic alterations in the VHL gene is associated with increased diabetes and cardiovascular risk: a UK biobank study.一项英国生物银行研究表明，VHL基因种系遗传改变导致的假性低氧血症与糖尿病和心血管疾病风险增加有关。
Cardiovasc Diabetol. 2025 Jun 4;24(1):239. doi: 10.1186/s12933-025-02799-1.
5
Case Report: Importance of high-throughput genetic investigations in the differential diagnosis of unexplained erythrocytosis.病例报告：高通量基因检测在不明原因红细胞增多症鉴别诊断中的重要性
Pathol Oncol Res. 2025 Mar 10;31:1612037. doi: 10.3389/pore.2025.1612037. eCollection 2025.
6
Von Hippel-Lindau Disease : A Comprehensive Review of Diagnosis, Genetics, Clinical Challenges, and Surveillance.希佩尔-林道病：诊断、遗传学、临床挑战及监测的全面综述
J Korean Neurosurg Soc. 2025 May;68(3):338-349. doi: 10.3340/jkns.2025.0018. Epub 2025 Mar 20.
7
A New Era of Management of Von Hippel-Lindau Disease-Associated Tumors With Belzutifan.贝佐替凡开启VHL病相关肿瘤管理的新时代
Clin J Oncol Nurs. 2025 Jan 17;29(1):25-29. doi: 10.1188/25.CJON.25-29.
8
Belzutifan as the Primary Treatment of Bilateral Juxtapapillary Retinal Hemangioblastoma in a Patient With Von Hippel-Lindau Disease.贝佐替凡作为冯·希佩尔-林道病患者双侧视乳头旁视网膜血管瘤的主要治疗方法
J Vitreoretin Dis. 2024 Dec 31:24741264241309684. doi: 10.1177/24741264241309684.
9
Clinical characteristics and surgical strategy of sporadic cerebellar hemangioblastomas.散发性小脑血管母细胞瘤的临床特征及手术策略
Mol Clin Oncol. 2024 Sep 9;21(5):83. doi: 10.3892/mco.2024.2781. eCollection 2024 Nov.
10
Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics.冯·希佩尔-林道病治疗中的遗传学、病理生理学及当前挑战
Diagnostics (Basel). 2024 Aug 29;14(17):1909. doi: 10.3390/diagnostics14171909.
本文引用的文献
1
The cerebellar hemangioblastomas; review of fifty-three cases with special reference to cerebellar cysts and the association of polycythemia.小脑成血管细胞瘤：53例病例回顾，特别提及小脑囊肿及红细胞增多症的关联
AMA Arch Neurol Psychiatry. 1952 Feb;67(2):237-52.
2
LINDAU'S DISEASE. REVIEW OF THE LITERATURE AND STUDY OF A LARGE KINDRED.林道氏病。文献综述及一个大家系的研究
Am J Med. 1964 Apr;36:595-617. doi: 10.1016/0002-9343(64)90107-x.
3
Apert's syndrome (a type of acrocephalosyndactyly)-observations on a British series of thirty-nine cases.阿佩尔综合征（一种尖头并指畸形）——对英国39例病例的观察
Ann Hum Genet. 1960 May;24:151-64. doi: 10.1111/j.1469-1809.1959.tb01728.x.
4
Lindau's disease in five generations.五代人中的林道病。
Ann Hum Genet. 1957 Oct;22(1):7-15. doi: 10.1111/j.1469-1809.1957.tb01293.x.
5
Cerebellar hemangiomas; a clinico-pathologic study of fourteen cases.
Am Surg. 1954 Apr;20(4):410-23.
6
Complex segregation analysis with pointers.使用指针的复杂分离分析。
Hum Hered. 1981;31(5):312-21. doi: 10.1159/000153231.
7
Segregation and linkage analyses of von Hippel Lindau disease among 220 descendants from one kindred.对来自一个家族的220名后代进行的希佩尔-林道病的分离分析和连锁分析。
Am J Hum Genet. 1984 Jan;36(1):131-42.
8
[Hemangioblastomas of the central nervous system. A clinical study].
Eur Arch Psychiatry Neurol Sci. 1984;234(3):149-56. doi: 10.1007/BF00461553.
9
Von Hippel-Lindau syndrome: a report on three kindreds.冯·希佩尔-林道综合征：关于三个家族的报告。
J Med Genet. 1970 Jun;7(2):155-7. doi: 10.1136/jmg.7.2.155.
10
[Family study of a classic case of von Hippellindau syndrome].[冯·希佩尔-林道综合征经典病例的家系研究]
Langenbecks Arch Chir. 1965 Aug 30;311(3):310-22. doi: 10.1007/BF01539824.
Zotero 插件