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References (17)
-
E. Maher, J. Yates, R. Harries, C. Benjamin, R. Harris, A. Moore, M. Ferguson-Smith (1990)
Clinical features and natural history of von Hippel-Lindau disease.The Quarterly journal of medicine, 77 283
-
H. Neumann, O. Wiestler (1991)
Clustering of features and genetics of von Hippel-Lindau syndromeThe Lancet, 338
-
J. Whaley, '. Naglich, L. Gelbert, Y. Hsia, J. Lamiell, J. Green, D. Collins, H. Neumann, J. Laidlaw, '. Li, Andres Klein-Szanto, B. Seizinger, N. Kley (2007)
Germ-Line Mutations in the von Hippel-Lindau Tumor-Suppressor Gene Are Similar to Somatic von Hippel-Lindau Aberrations in Sporadic Renal Cell Carcinoma -
F. Hes, R. Zewald, Ton Peeters, R. Sijmons, T. Links, J. Verheij, G. Matthijs, E. Legius, G. Mortier, K. Torren, Malou Rosman, C. Lips, P. Pearson, R. Luijt (2000)
Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) geneHuman Genetics, 106
-
I. Maddock, A. Moran, E. Maher, M. Teare, A. Norman, S. Payne, R. Whitehouse, C. Dodd, M. Lavin, N. Hartley, M. Super, D. Evans (1996)
A genetic register for von Hippel-Lindau disease.Journal of Medical Genetics, 33
-
J. Cairns (1991)
Cold spring harbor.Science, 251 4989
-
B. Zbar, T. Kishida, Fan Chen, L. Schmidt, E. Maher, F. Richards, P. Crossey, A. Webster, N. Affara, M. Ferguson-Smith, H. Brauch, D. Glavač, H. Neumann, S. Tisherman, J. Mulvihill, D. Gross, T. Shuin, J. Whaley, B. Seizinger, N. Kley, S. Olschwang, C. Boisson, S. Richard, C. Lips, W. Linehan, M. Lerman (1996)
Germline mutations in the Von Hippel‐Lindau disease (VHL) gene in families from North America, Europe, and JapanHuman Mutation, 8
-
J. Gnarra, K. Tory, Yongkai Weng, L. Schmidt, M. Wei, Hongzhen Li, F. Latif, Song-Yuan Liu, F. Chen, F. Duh, I. Lubensky, D. Duan, C. Florence, R. Pozzatti, M. Walther, N. Bander, H. Grossman, H. Brauch, S. Pomer, J. Brooks, W. Isaacs, M. Lerman, B. Zbar, W. Linehan (1994)
Mutations of the VHL tumour suppressor gene in renal carcinomaNature Genetics, 7
-
S. Olschwang, S. Richard, C. Boisson, S. Giraud, P. Laurent-Puig, F. Resche, G. Thomas (1998)
Germline mutation profile of the VHL gene in von Hippel‐Lindau disease and in sporadic hemangioblastomaHuman Mutation, 12
-
Eamonn Maher, L. Iselius, J. Yates, M. Littler, C. Benjamin, R. Harris, J. Sampson, A. Williams, M. Ferguson-Smith, N. Morton (1991)
Von Hippel-Lindau disease: a genetic study.Journal of Medical Genetics, 28
-
(1990)
Genomics 1990;8:634–640 -
F. Latif, K. Tory, J. Gnarra, M. Yao, F. Duh, M. Orcutt, T. Stackhouse, I. Kuzmin, W. Modi, L. Geil (1993)
Identification of the von Hippel-Lindau disease tumor suppressor gene.Science, 260 5112
-
Shigeto Hosoe, H. Brauch, Farida Latif, G. Glenn, Gambert Daniel, Sherri Bale, P. Choyke, Michael Gorin, Edward Oldfield, Arlene Berman, Jack Goodman, M. Orcutt, K. Hampsch, John Dllisio, William Modi, Wesley McBride, Patrick Anglard, Gary Weiss, M. Walther, W. Linehan, M. Lerman, Berton Zbar (1990)
Localization of the von Hippel-Lindau disease gene to a small region of chromosome 3.Genomics, 8 4
-
A. Moore, Eamonn Maher, P. Rosen, Z. Gregor, A. Bird (1991)
Ophthalmological screening for von Hippel-Lindau diseaseEye, 5
-
Fan Chen, T. Kishida, M. Yao, T. Hustad, D. Glavač, M. Dean, J. Gnarra, M. Orcutt, F. Duh, G. Glenn, Jane Green, Y. Hsia, J. Lamiell, Hua Li, M. Wei, L. Schmidt, K. Tory, I. Kuzmin, T. Stackhouse, F. Latif, W. Linehan, M. Lerman, B. Zbar (1995)
Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotypeHuman Mutation, 5
-
Paul A.Crossey, Frances M.Richards, K. Foster, Jane reen, A. Prowse, Farida Latlf, M. Lerman, B. Zbar, Nabeel Atfara, M. Ferguson-Smith, E. Maher (1994)
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.Human molecular genetics, 3 8
-
Eamonn Maher, E. Bentley, J. Yates, Farida Latif, M. Lerman, Berton Zbar, N. Affara, M. Ferguson-Smith (1991)
Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analysis.Genomics, 10 4
- Publisher
- Karger
- Copyright
- © 2004 S. Karger AG, Basel
- ISSN
- 1011-7571
- eISSN
- 1423-0151
- DOI
- 10.1159/000080467
- Publisher site
- See Article on Publisher Site
Abstract
Objective: To determine the germline mutation in an extended family in which 1 member was diagnosed clinically with von Hippel-Lindau (VHL) disease and to investigate 3 generations of the family. Subjects and Methods: The polymerase chain reaction-single strand conformation polymorphism sequencing techniques were used to identify the germline mutation in the VHL gene in the patient and also to study 9 other members of the extended family over 3 generations. Results: The patient and 3 other members of the family were shown to have the same mutation in the splice donor site of the first intron. The mutation was identified as IVS1 + 1 G→T. Conclusion: The findings of this study indicate the presence of VHL mutation in a Kuwaiti family with Arab parentage. It is hoped that the study would contribute to understanding the types of mutation in VHL in the Middle East. Its early detection and diagnosis would help in genetic counseling of VHL patients.
Journal
Medical Principles and Practice – Karger
Published: Jan 1, 2004
Keywords: von Hippel-Lindau disease; Polymerase chain reaction-single strand conformation polymorphism