VHL P25L is not a pathogenic von Hippel-Lindau mutation: A family study

Molecular Diagnosis and Therapy

Volumn 10, Issue 4, 2006, Pages 239-242

  Pettman, Rachel K ^a   Crowley, Amy ^a   Riddell, Christie ^a,b   Ludman, Mark D ^a,b  

^a IWK HEALTH CENTRE   (Canada)

^b DALHOUSIE UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

LYSINE; PROLINE; VON HIPPEL LINDAU PROTEIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CANCER SCREENING; CENTRAL NERVOUS SYSTEM TUMOR; CHROMOSOME 3P; CLEAR CELL CARCINOMA; CLINICAL FEATURE; CONTROLLED STUDY; CYST; DNA SEQUENCE; GENE MUTATION; GENETIC DISORDER; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HEMANGIOBLASTOMA; HEMANGIOMA; HUMAN; KIDNEY CARCINOMA; PATHOGENESIS; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; RETINA TUMOR; SEQUENCE ANALYSIS; VON HIPPEL LINDAU DISEASE;

EID: 33747142699     PISSN: 11771062     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03256462     Document Type: Article

References (21)

1. Linehan W, Lerman M, Zbar B. Identification of the von Hippel-Lindau (VHL) gene: its role in renal cancer. JAMA 1995 Feb 15; 273 (7): 564-70
2. Lonser R, Glenn G, Walther M, et al. von Hippel-Lindau disease. Lancet 2003 Jun 14; 361 (9374): 2059-67
3. Maher E, Kaelin W. von Hippel-Lindau disease. Medicine (Baltimore) 1997 Nov; 76 (6): 381-91
4. Maher E, Yates J, Harries R, et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med 1990 Nov; 77 (283): 1151-63
5. Melmon K, Rosen S. Lindau's disease: review of the literature and study of a large kindred. Am J Med 1964 Apr; 36: 595-617
6. Sano T, Horiguchi H. Von Hippel-Lindau disease. Microsc Res Tech 2003 Feb 1; 60 (2): 159-64
7. Singh A, Shields C, Shields J. von Hippel-Lindau disease. Surv Ophthalmol 2001; 46 (2): 117-42
8. Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel-Lindau disease tumour suppressor gene. Science 1993 May 28; 260 (5112): 1317-20
9. Maddock I, Moran A, Maher E, et al. A genetic register for von Hippel-Lindau disease. J Med Genet 1996 Feb; 33 (2): 120-7
10. Maher E, Iselius L, Yates J, et al. Von Hippel-Lindau disease: a genetic study. J Med Genet 1991 Jul; 28 (7): 443-7
11. Friedrich C. Genotype-phenotype correlation in von Hippel-Lindau syndrome. Hum Mol Genet 2001 Apr; 10 (7): 763-7
12. Richard S, David P, Marsot-Dupuch K, et al. CAN hemangioblastomas, endolymphatic sac tumours and von Hippel-Lindau disease. Neurosurg Rev 2000 Mar; 23 (1): 1-22
13. Schoenfeld A, Davidowitz E, Burk R. A second major native von Hippel-Lindau gene product, initiated from an internal translation start site, functions as a tumour suppressor. Proc Natl Acad Sci U S A 1998 Jul 21; 95 (15): 8817-22
14. Iliopoulos O, Ohh M, Kaelin W. PVHL19 is a biologically active product of the von Hippel-Lindau gene arising from internal translation initiation. Proc Natl Acad Sci U S A 1998 Sep 29; 95 (20): 11661-6
15. Beroud C, Joly D, Gallou C, et al. Software and database for the analysis of mutations in the VHL gene. Nucleic Acids Res 1998; 26 (1): 256-8
16. Stolle C, Glenn G, Zbar B, et al. Improved detection of germline mutations in the VHL disease tumour suppressor gene. Hum Mutat 1998; 12 (6): 417-23
17. van der Harst E, de Krijger DD, Dinjens WN, et al. Germline mutations in the VHL gene in patients presenting with phaeochromocytomas. Int J Cancer 1998 Jul 29; 77 (3): 337-40
18. Rothberg P, Bradley J, Baker D, et al. Is P25L a 'Real' VHL Mutation? Mol Diagn 2001 Mar; 6 (1): 49-54
19. Greer CE, Wheeler CM, Manos MM. PCR Amplification from paraffin-embedded tissues: sample preparation and the effects of fixation. In: Dieffenbach CW, Dveksler GS, editors. PCR primer: a laboratory manual. New York: Cold Spring Harbour Press, 1995: 99-112
20. Wildhardt G, Trubenbach J, Lentes K, et al. Deletions in the von Hippel-Lindau Tumor suppressor Gene detected by MLPA [abstract]. Eur J Hum Genet 2004; 12 Suppl. 1: 183
21. Maher E, Iselius L, Yates J, et al. Von Hippel-Lindau disease: a genetic study. J Med Genet 1991; 28: 443-7