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Research Article

Genotype-phenotype Correlations, and Retinal Function and Structure in von Hippel-Lindau Disease

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Pages 91-106 | Received 03 Oct 2013, Accepted 18 Jan 2014, Published online: 20 Feb 2014

References

  • Latif F, Tory K, Gnarra J, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 1993;260:1317–1320
  • Maher ER, Yates JRW, Harries R, et al. Clinical features and natural history of von Hippel-Lindau disease. Q J Med 1990;283:1151–1163
  • Lonser RR, Glenn GM, Walther M, et al. von Hippel-Lindau disease. Lancet 2003;361:2059–2067
  • Hes FJ, Höppener JoWM, van der Luijt RB, et al. Von Hippel-Lindau Disease. Hered Cancer Clin Pract 2005;3:171–178
  • Maher ER, Neumann HPH, Richard S. von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet 2011;19:617–623
  • Dollfus H, Massin P, Taupin P, et al. Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. Invest Ophthalmol Vis Sci 2002;43:3067–3074
  • Maher ER, Iselius L, Yates JRW, et al. Von Hippel-Lindau disease: a genetic study. J Med Genet 1991;28:443–447
  • Iliopoulos O, Kibel A, Gray S, et al. Tumour suppression by the human von Hippel-Lindau gene product. Nature Med 1995;1:822–826
  • Iliopoulos O, Levy AP, Jiang C, et al. Negative regulation of hypoxia-inducible genes by the von Hippel-Lindau protein. Proc Natl Acad Sci USA 1996;93:10595–10599
  • Maxwell PH, Wiesener MS, Chang G-W, et al. The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis. Nature 1999;399:271–275
  • Lonergan KM, Iliopoulos O, Ohh M, et al. Regulation of hypoxia-inducible mRNAs by the von Hippel-Lindau tumor suppressor protein requires binding to complex containing elongins B/C and Cul2. Mol Cell Biol 1998;18:732–741
  • Pause A, Lee S, Worrell RA, et al. The von Hippel-Lindau tumor-suppressor gene product forms a stabile complex with human CUL-2, a member of the Cdc53 family of proteins. Proc Natl Acad Sci USA 1997;94:2156–2161
  • Kamura T, Sato S, Iwai K, et al. Activation of HIF1a ubiquitination by a reconstituted von Hippel-Lindau (VHL) tumor suppressor complex. PNAS 2000;97:10430–10435
  • Kondo K, Kim WY, Lechpammer M, et al. Inhibition of HIF2a is sufficient to suppress pVHL-defective tumor growth. PLoS Biology 2003;3:439–444
  • Maxwell PH, Dachs GU, Gleadle JM, et al. Hypoxia-inducible factor-1 modulates gene expression in solid tumors and influences both angiogenesis and tumor growth. Proc Natl Acad Sci USA 1997;94:8104–8109
  • Chan CC, Vortmeyer AO, Chew EY, et al. VHL gene deletion and enhanced VEGF gene expression detected in the stromal cells of retinal angioma. Arch Ophthalmol 1999;117:625–630
  • Chan CC, Lee Y-S, Zhuang Z, et al. Von Hippel-Lindau gene deletion and expression of hypoxia-inducible factor and ubiquitin in optic nerve hemangioma. Trans Am Ophthalmol Soc 2004;102:75–81
  • Chan CC, Collins ABD, Chew EY. Molecular pathology of eyes with von Hippel-Lindau (VHL) disease A review. Retina 2007;27:1–7
  • Tang N, Mack F, Haase VH, et al. pVHL function is essential for endothelial extracellular matrix deposition. Mol Cell Biol 2006;26:2519–2530
  • Kurihara T, Kubata Y, Ozawa Y, et al. von Hippel-Lindau protein regulates transition from fetal to adult circulatory system in retina. Development 2010;137:1563–1571
  • Chen F, Kishida T, Yao M, et al. Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Hum Mutat 1995;5:66–75
  • Maher ER, Webster AR, Richards FM, et al. Phenotypic expression in von Hippel Lindau disease: correlations with germline VHL gene mutations. J Med Genet 1996;33:328–332
  • Brauch H, Kishida T, Glavac D, et al. Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect. Hum Genet 1995;95:551–556
  • Allen RC, Webster AR, Sui R, et al. Molecular characterization and ophthalmic investigation of a large family with type 2A von Hippel-Lindau disease. Arch Ophthalmol 2001;119:1659–1665
  • Zbar B, Kishida T, Chen F, et al. Germline mutations in the von Hippel-Lindau disease (VHL) gene in families from North America, Europe and Japan. Hum Mutat 1996;8:348–357
  • Hes F, Zewald R, Peeters T, et al. Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene. Hum Genet 2000;106:425–431
  • Stolle C, Glenn G, Zbar B, et al. Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Hum Mutat 1998;12:417–423
  • Ong KR, Woodward ER, Killick P, et al. Genotype-phenotype correlations in von Hippel-Lindau disease. Hum Mutat 2007;28:143–149
  • More AT, Maher ER, Rosen P, et al. Ophthalmological screening for von Hippel-Lindau disease. Eye 1991;5:723–728
  • Webster AR, Maher ER, Moore AT. Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation. Arch Ophthalmol 1999;117:371–378
  • Chew EY. Ocular manifestations of von Hippel-Lindau disease: clinical and genetic investigations. Trans Am Ophthalmol Soc 2005;103:495–511
  • Webster AR, Richards FM, MacRoland FE, et al. An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects. Am J Hum Genet 1998;63:1025–1035
  • Mettu P, Agrón E, Samtani S, et al. Genotype-phenotype correlation in ocular von Hippel-Lindau (VHL) disease: the effect of missense mutation position on ocular VHL phenotype. Invest Ophthalmol Vis Sci 2010;51:4464–4470
  • Wong WT, Agrón E, Coleman HR, et al. Genotype-phenotype correlation in von Hippel-Lindau disease with retinal angiomatosis. Arch Ophthalmol 2007;125:239–245
  • Wong WT, Agrón E, Coleman HR, et al. Clinical characterization of retinal capillary hemangioblastomas in a large population of patients with von Hippel-Lindau disease. Ophthalmology 2008;115:181–188
  • Kreusel KM, Bechrakis NE, Krause L, et al. Retinal angiomatosis in von Hippel-Lindau disease. A longitudinal ophthalmologic study. Ophthalmology 2006;113:1418–1424
  • Knudson AG. Mutation and cancer: statistical study of retinoblastoma. Proc Nat Acad Sci USA 1971;68:820–823
  • Prowse AH, Webster AR, Richards FM, et al. Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors. Am J Hum Genet 1997;60:765–771
  • Grossniklaus HE, Thomas JW, Vigneswaran N, et al. Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. Ophthalmology 1992;99:140–145
  • Chan CC, Chew EY, Zhuang Z. Expression of stem cells markers in ocular hemangioblastoma associated with von Hippel-Lindau (VHL) Disease. Mol Vis 2005;11:697–704
  • Liang X, Shen D, Huang Y, et al. Molecular pathology and CXCR4 expression in surgically excised retinal hemangioblastomas associated with von Hippel-Lindau disease. Ophthalmology 2007;114:147–156
  • Park DM, Zhuang Z, Chen L, et al. von Hippel-Lindau disease-associated hemangioblastomas are derived from embryologic multipotent cells. PLoS Med 2007;4:e60
  • Shively SB, Falke EA, Li J, et al. Developmentally arrested structures preceding cerebellar tumors in von Hippel-Lindau disease. Mod Pathol. 2011;24:1023–1030
  • Lubinski W, Krzystolik K, Cybulski C, et al. Retinal function in the von Hippel- Lindau disease. Doc Ophthalmol 2003;106:271–280
  • Marmor MF, Fulton AB, Holder GE, et al. ISCEV Standard for full-field clinical electroretinography. Doc Ophthalmol 2009;118:69–77
  • Schouten JP, McElgunn CJ, Waaijer R, et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002;30:e57
  • Richards FM, Crossey PA, Phipps ME, et al. Detailed mapping of germline deletions of the von Hippel-Lindau disease tumor suppressor gene. Hum Mol Genet 1994;3:595–598
  • Meuller J, Kanter-Smoler G, Nygren AOH, et al. Identification of genomic deletions of the APC gene in familial adenomatous polyposis by two independent quantitative techniques. Genetic Testing 2004;8:248–256
  • Neumann HPH, Bausch B, Mc Whinney SR, et al. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 2002;346:1459–1466
  • Whaley JM, Naglich J, Gelbert L, et al. Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma. Am J Hum Genet 1994;55:1092–1102
  • Ercolino T, Becherini L, Valeri A, et al. Uncommon clinical presentations of pheochromocytoma and paraganglioma in two different patients affected by two distinct novel VHL germline mutations. Clin Endocrinol 2008;68:762–768
  • Maddock IR, Moran A, Maher ER, et al. A genetic register for von Hippel-Lindau disease. J Med Genet 1996;33:120–127
  • Neumann HPH, Bender BU. Genotype-phenotype correlations in von Hippel-Lindau disease. J Intern Med 1998;243:541–545
  • Langrehr JM, Bahra M, Kristiansen G, et al. Neuroendocrine tumor of the pancreas and bilateral adrenal pheochromocytomas. A rare manifestation of von Hippel-Lindau disease in childhood. J Pediatr Surg 2007;42:1291–1294
  • Sorrell AD, Lee S, Stolle C, et al. Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma. Clin Genet 2011;79:539–545
  • Schmidt D, Textor B, Pein OT, et al. Critical role for NF-kB-induced JunB in VEGF regulation and tumor angiogenesis. EMBO J 2007;26:710–719
  • Van Der Harst E, de Krijger RR, Dinjens WNM, et al. Germline mutations in the VHL gene in patients presenting with phaeochromocytomas. Int J Cancer 1998;77:337–340
  • Hoffman MA, Ohh M, Yang H, et al. von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. Hum Mol Genet 2001;10:1019–1027
  • Whitson JT, Welch RB, Green WR. Von Hippel-Lindau disease: case report of a patient with spontaneous regression of a retinal angioma. Retina 1986;6:253–259
  • Wittebol-Post D, Hes FJ, Lips CJM. The eye in von Hippel-Lindau disease. Long-term follow-up of screening and treatment: recommendations. J Intern Med 1998;243:555–561
  • Singh AD, Nouri M, Shields CL, et al. Treatment of retinal capillary hemangioma. Ophthalmology 2002;109:1799–1806
  • Lane CM, Turner G, Gregor ZJ, et al. Laser treatment of retinal angiomatosis. Eye 1989;3:33–38
  • MacCabe CM, Flynn HW, Shields CL, et al. Juxtapapillary capillary hemangiomas. Clinical features and visual acuity outcomes. Ophthalmology 2000;107:2240–2249
  • Schmidt-Erfurth UM, Kusserow C, Barbazetto IA, et al. Benefits and complications of photodynamic therapy of papillary capillary hemangiomas. Ophthalmology 2002;109:1256–1266
  • Wong WT, Liang K, Hammel K, et al. Intravitreal Ranibizumab therapy for retinal capillary hemangioblastoma related to von Hippel-Lindau disease. Ophthalmology 2008;115:1957–1964
  • Reichel E. Electrophysiology and miscellaneous non-invasive tests. In: Regillo CD, Brown GC, Flynn HW, editors. Vitreoretinal disease: the essentials. Thieme Medical Publishers, Inc: New York; 1999. pp 87–93
  • Perlman I. Relationship between the amplitudes of the b wave and the a wave as a useful index for evaluating the electroretinogram. Br J Ophthalmol 1983;67:443–448
  • Juen S, Kieselbach GF. Electrophysiological changes in juvenile diabetics without retinopathy. Arch Ophthalmol 1990;108:372–375
  • Tyrberg M, Lindblad U, Melander A, et al. Electrophysiological studies in newly onset type 2 diabetes without visible vascular retinopathy. Doc Ophthalmol 2011;123:193–198
  • Biallosterski C, van Velthoven MEJ, Michels RPJ, et al. Decreased optical coherence tomography-measured pericentral retinal thickness in patients with diabetes mellitus type 1 with minimal diabetic retinopathy. Br J Ophthalmol 2007;91:1135–1138

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