Disorders of the Venous System

Emery and Rimoin's Principles and Practice of Medical Genetics

Volumn , Issue , 2013, Pages 1-9

  Brouillard, Pascal ^a   Limaye, Nisha ^a   Boon, Laurence M ^a   Vikkula, Miikka ^a  

^a DE DUVE INSTITUTE   (Belgium)

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[No Author keywords available]

Indexed keywords

EID: 84882737417     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-383834-6.00179-8     Document Type: Chapter

References (71)

1. P. Brouillard and M. Vikkula (2007) Genetic Causes of Vascular Malformations. Hum. Mol. Genet. 16(Spec No. 2), R140-R149.
2. N. Limaye, L.M. Boon and M. Vikkula (2009) From Germline towards Somatic Mutations in the Pathophysiology of Vascular Anomalies. Hum. Mol. Genet. 18(R1), R65-R74.
3. J.B. Mulliken and J. Glowacki (1982) Hemangiomas and Vascular Malformations in Infants and Children: A Classification Based on Endothelial Characteristics. Plast. Reconstr. Surg. 69(3), 412-422.
4. J.B. Mulliken and A.E. Young (1988) Vascular Birthmarks: Hemangiomas and Malformations. Philadelphia: WB Saunders
5. T. Kume (2010) Specification of Arterial, Venous, and Lymphatic Endothelial Cells during Embryonic Development. Histol. Histopathol. 25(5), 637-646.
6. E.C. Castro, W. Devine and C. Galambos (2010) The Anatomy of a Novel Malformation of the Cardinal Vein System. Pediatr. Dev. Pathol. 13(4), 318-321.
7. P.G. Postema, L.A. Rammeloo and J. Hruda (2008) Clinical Significance of a Persistent Left Superior Vena Cava. Ultrasound Obstet. Gynecol. 31(1), 113-114. author reply 114
8. T. Hoehn, M. Lueder, K.G. Schmidt, J. Schaper and E. Mayatepek (2006) Persistent Right Umbilical Vein Associated with Complex Congenital Cardiac Malformation. Am. J. Perinatol. 23(3), 181-182.
9. A.A. Noel, P. Gloviczki, K.J. Cherry Jr., T.W. Rooke, A.W. Stanson and D.J. Driscoll (2000) Surgical Treatment of Venous Malformations in Klippel–Trenaunay Syndrome. J. Vasc. Surg. 32(5), 840-847.
10. M.H. Meissner, G. Moneta, K. Burnand, P. Gloviczki, J.M. Lohr, F. Lurie, et al. (2007) The Hemodynamics and Diagnosis of Venous Disease. J. Vasc. Surg. 46(Suppl. S(6)), 4S-24S.
11. L.M. Boon, M. Vikkula (2012) Vascular Anomalies. K. Wolff, L.A. Goldsmith, S.I. Katz, et al., (Eds) 8th ed. Fitzpatrick’s Dermatology in General Medicine Vol. 2 McGraw-Hill Professional Publishing Section 28, Chapter 172, pp. 2076–2094.
12. T.F. Goodman and D.C. Abele (1971) Multiple Glomus Tumors: A Clinical and Electron Microscopic Study. Arch. Dermatol. 103(1), 11-23.
13. R.J. Gorlin, R.M. Fusaro and J.W. Benton (1960) Multiple Glomus Tumor of the Pseudocavernous Hemangioma Type. Arch. Dermatol. 82 776-778.
14. D. Astuti, F. Latif, A. Dallol, P.L. Dahia, F. Douglas, E. George, et al. (2001) Gene Mutations in the Succinate Dehydrogenase Subunit SDHB Cause Susceptibility to Familial Pheochromocytoma and to Familial Paraganglioma. Am. J. Hum. Genet. 69(1), 49-54.
15. B.E. Baysal, R.E. Ferrell, J.E. Willett-Brozick, E.C. Lawrence, D. Myssiorek, A. Bosch, et al. (2000) Mutations in SDHD, a Mitochondrial Complex II Gene, in Hereditary Paraganglioma. Science 287(5454), 848-851.
16. H.X. Hao, O. Khalimonchuk, M. Schraders, N. Dephoure, J.P. Bayley, H. Kunst, et al. (2009) SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, is Mutated in Paraganglioma. Science 325(5944), 1139-1142.
17. J. Masuoka, S. Brandner, W. Paulus, D. Soffer, A. Vital, L. Chimelli, et al. (2001) Germline SDHD Mutation in Paraganglioma of the Spinal Cord. Oncogene 20(36), 5084-5086.
18. J.M. Milunsky, T.A. Maher, V.V. Michels and A. Milunsky (2001) Novel Mutations and the Emergence of a Common Mutation in the SDHD Gene Causing Familial Paraganglioma. Am. J. Med. Genet. 100(4), 311-314.
19. S. Niemann and U. Muller (2000) Mutations in SDHC Cause Autosomal Dominant Paraganglioma, Type 3. Nat. Genet. 26(3), 268-270.
20. C.W. Laymon and W.C. Peterson Jr. (1965) Glomangioma (Glomus Tumor): A Clinicopathologic Study with Special Reference to Multiple Lesions Appearing during Pregnancy. Arch. Dermatol. 92(5), 509-514.
21. L.M. Boon, P. Brouillard, A. Irrthum, L. Karttunen, M.L. Warman, R. Rudolph, et al. (1999) A Gene for Inherited Cutaneous Venous Anomalies (“Glomangiomas”) Localizes to Chromosome 1p.21–22. Am. J. Hum. Genet. 65(1), 125-133.
22. P. Brouillard, M. Ghassibe, A. Penington, L.M. Boon, A. Dompmartin, I.K. Temple, et al. (2005) Four Common Glomulin Mutations Cause Two Thirds of Glomuvenous Malformations (“Familial Glomangiomas”): Evidence for a Founder Effect. J. Med. Genet. 42(2), e13.
23. A. Irrthum, P. Brouillard, O. Enjolras, N.F. Gibbs, L.F. Eichenfield, B.R. Olsen, et al. (2001) Linkage Disequilibrium Narrows Locus for Venous Malformation with Glomus Cells (VMGLOM) to a Single 1.48 Mbp YAC. Eur. J. Hum. Genet. 9(1), 34-38.
24. R. Rudolph (1993) Familial Multiple Glomangiomas. Ann. Plast. Surg. 30(2), 183-185.
25. L.M. Boon, J.B. Mulliken, O. Enjolras and M. Vikkula (2004) Glomuvenous Malformation (Glomangioma) and Venous Malformation: Distinct Clinicopathologic and Genetic Entities. Arch. Dermatol. 140(8), 971-976.
26. A. Dompmartin, M. Vikkula and L.M. Boon (2010) Venous Malformation: Update on Aetiopathogenesis, Diagnosis and Management. Phlebology 25 224-235.
27. S.B. Mallory, O. Enjolras, L.M. Boon, E. Rogers, D.R. Berk, F. Blei, et al. (2006) Congenital Plaque-Type Glomuvenous Malformations Presenting in Childhood. Arch. Dermatol. 142(7), 892-896.
28. U. Blume-Peytavi, Y.D. Adler, C.C. Geilen, W. Ahmad, A. Christiano, S. Goerdt, et al. (2000) Multiple Familial Cutaneous Glomangioma: A Pedigree of 4 Generations and Critical Analysis of Histologic and Genetic Differences of Glomus Tumors. J. Am. Acad. Dermatol. 42(4), 633-639.
29. A. Dompmartin, F. Ballieux, P. Thibon, A. Lequerrec, C. Hermans, P. Clapuyt, et al. (2009) Elevated D-Dimer Level in the Differential Diagnosis of Venous Malformations. Arch. Dermatol. 145(11), 1239-1244.
30. E. Goujon, K.M. Cordoro, M. Barat, T. Rousseau, P. Brouillard, M. Vikkula, et al. (2010) Congenital Plaque-Type Glomuvenous Malformations Associated with Fetal Pleural Effusion and Ascites. Pediatr. Dermatol.
31. P. Brouillard, L.M. Boon, J.B. Mulliken, O. Enjolras, M. Ghassibe, M.L. Warman, et al. (2002) Mutations in a Novel Factor, Glomulin, Are Responsible for Glomuvenous Malformations (“Glomangiomas”). Am. J. Hum. Genet. 70(4), 866-874.
32. P. Brouillard, L.M. Boon, N. Revencu, et al. (2011) Genotype and Phenotype of 153 Families with a Mutation in GLMN. Mol. Syndromol.
33. A.H. O’Hagan, F. Maloney, C. Buckley, E.A. Bingham, M.Y. Walsh, K.E. McKenna, et al. (2006) Mutation Analysis in Irish Families with Glomuvenous Malformations. Br. J. Dermatol. 154(3), 450-452.
34. A. Ostberg, G. Moreno, T. Su, N. Trisnowati, D. Marchuk and D.F. Murrell (2007) Genetic Analysis of a Family with Hereditary Glomuvenous Malformations. Australas. J. Dermatol. 48(3), 170-173.
35. Amyere, M.; Aerts, V.; Brouillard, P., et al. Somatic Uniparental Isodisomy explains Multifocality of Glomuvenous Malformations, in press.
36. N. Kato, M. Kumakiri and A. Ohkawara (1990) Localized Form of Multiple Glomus Tumors: Report of the First Case Showing Partial Involution. J. Dermatol. 17(7), 423-428.
37. B.A. McIntyre, P. Brouillard, V. Aerts, I. Gutierrez-Roelens and M. Vikkula (2004) Glomulin Is Predominantly Expressed in Vascular Smooth Muscle Cells in the Embryonic and Adult Mouse. Gene Expr. Patterns 4(3), 351-358.
38. K.K. Hirschi, S.A. Rohovsky and P.A. D’Amore (1998) PDGF, TGF-beta, and Heterotypic Cell–Cell Interactions Mediate Endothelial Cell-Induced Recruitment of 10T1/2 Cells and Their Differentiation to a Smooth Muscle Fate. J. Cell Biol. 141(3), 805-814.
39. T. Taher, P. Derksen, O. de Boer, M. Spaargaren, P. Teeling, A. van der Wal, et al. (2002) Hepatocyte Growth Factor Triggers Signaling Cascades Mediating Vascular Smooth Muscle Cell Migration. Biochem. Biophys. Res. Commun. 298(1), 80.
40. Y.G. Chen, F. Liu and J. Massague (1997) Mechanism of TGFbeta Receptor Inhibition by FKBP12. EMBO J. 16(13), 3866-3876.
41. S. Grisendi, B. Chambraud, I. Gout, P.M. Comoglio and T. Crepaldi (2001) Ligand-Regulated Binding of FAP68 to the Hepatocyte Growth Factor Receptor. J. Biol. Chem. 276(49), 46632-46638.
42. G. Thomas and M.N. Hall (1997) TOR Signalling and Control of Cell Growth. Curr. Opin. Cell Biol. 9(6), 782-787.
43. X. Wang, W. Li, M. Williams, N. Terada, D.R. Alessi and C.G. Proud (2001) Regulation of Elongation Factor 2 Kinase by p.90(RSK1) and p.70 S6 Kinase. EMBO J. 20(16), 4370-4379.
44. T. Arai, J.S. Kasper, J.R. Skaar, S.H. Ali, C. Takahashi and J.A. DeCaprio (2003) Targeted Disruption of p.185/Cul7 Gene Results in Abnormal Vascular Morphogenesis. Proc. Natl. Acad. Sci. U.S.A. 100(17), 9855-9860.
45. M. Vikkula, L.M. Boon, K.L. Carraway 3rd, J.T. Calvert, A.J. Diamonti, B. Goumnerov, et al. (1996) Vascular Dysmorphogenesis Caused by an Activating Mutation in the Receptor Tyrosine Kinase TIE2. Cell 87(7), 1181-1190.
46. J.T. Calvert, T.J. Riney, C.D. Kontos, E.H. Cha, V.G. Prieto, C.R. Shea, et al. (1999) Allelic and Locus Heterogeneity in Inherited Venous Malformations. Hum. Mol. Genet. 8(7), 1279-1289.
47. V. Wouters, N. Limaye, M. Uebelhoer, A. Irrthum, L.M. Boon, J.B. Mulliken, et al. (2010) Hereditary Cutaneomucosal Venous Malformations Are Caused by TIE2 Mutations with Widely Variable Hyper-Phosphorylating Effects. Eur. J. Hum. Genet. 18(4), 414-420.
48. S. Davis, T.H. Aldrich, P.F. Jones, A. Acheson, D.L. Compton, V. Jain, et al. (1996) Isolation of Angiopoietin-1, a Ligand for the TIE2 Receptor, by Secretion-Trap Expression Cloning. Cell 87(7), 1161-1169.
49. P.C. Maisonpierre, C. Suri, P.F. Jones, S. Bartunkova, S.J. Wiegand, C. Radziejewski, et al. (1997) Angiopoietin-2, a Natural Antagonist for Tie2 That Disrupts in vivo Angiogenesis. Science 277(5322), 55-60.
50. D.M. Valenzuela, J.A. Griffiths, J. Rojas, T.H. Aldrich, P.F. Jones, H. Zhou, et al. (1999) Angiopoietins 3 and 4: Diverging Gene Counterparts in Mice and Humans. Proc. Natl. Acad. Sci. U.S.A. 96(5), 1904-1909.
51. R. Harfouche, J.P. Gratton, G.D. Yancopoulos, M. Noseda, A. Karsan and S.N. Hussain (2003) Angiopoietin-1 Activates both Anti- and Proapoptotic Mitogen-Activated Protein Kinases. FASEB J. 17(11), 1523-1525.
52. C.D. Kontos, T.P. Stauffer, W.P. Yang, J.D. York, L. Huang, M.A. Blanar, et al. (1998) Tyrosine 1101 of Tie2 Is the Major Site of Association of p.85 and Is Required for Activation of Phosphatidylinositol 3-Kinase and Akt. Mol. Cell. Biol. 18(7), 4131-4140.
53. D.J. Dumont, L. Anderson, M.L. Breitman and A.M. Duncan (1994) Assignment of the Endothelial-Specific Protein Receptor Tyrosine Kinase Gene (TEK) to Human Chromosome 9p.21. Genomics 23(2), 512-513.
54. T.N. Sato, Y. Tozawa, U. Deutsch, K. Wolburg-Buchholz, Y. Fujiwara, M. Gendron-Maguire, et al. (1995) Distinct Roles of the Receptor Tyrosine Kinases Tie-1 and Tie-2 in Blood Vessel Formation. Nature 376(6535), 70-74.
55. N. Limaye, V. Wouters, M. Uebelhoer, M. Tuominen, R. Wirkkala, J.B. Mulliken, et al. (2009) Somatic Mutations in Angiopoietin Receptor Gene TEK Cause Solitary and Multiple Sporadic Venous Malformations. Nat. Genet. 41(1), 118-124.
56. A. Dompmartin, A. Acher, P. Thibon, S. Tourbach, C. Hermans, V. Deneys, et al. (2008) Association of Localized Intravascular Coagulopathy with Venous Malformations. Arch. Dermatol. 144(7), 873-877.
57. Soblet, J.; Limaye, N.; Uebelhoer, M.; Dompmartin, A.; Vanwijck, R.; Boon, L. M., et al. Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations. Mol. Syndromol. (in press)
58. H.T. Hu, Y.H. Huang, Y.A. Chang, C.K. Lee, M.J. Jiang and L.W. Wu (2008) Tie2-R849W Mutant in Venous Malformations Chronically Activates a Functional STAT1 to Modulate Gene Expression. J. Invest. Dermatol. 128(9), 2325-2333.
59. P.N. Morris, B.J. Dunmore and N.P. Brindle (2006) Mutant Tie2 Causing Venous Malformation Signals Through Shc. Biochem. Biophys. Res. Commun. 346(1), 335-338.
60. P.N. Morris, B.J. Dunmore, A. Tadros, D.A. Marchuk, D.C. Darland, P.A. D’Amore, et al. (2005) Functional Analysis of a Mutant Form of the Receptor Tyrosine Kinase Tie2 Causing Venous Malformations. J. Mol. Med. 83(1), 58-63.
61. E.I. Korpelainen, M. Karkkainen, Y. Gunji, M. Vikkula and K. Alitalo (1999) Endothelial Receptor Tyrosine Kinases Activate the STAT Signaling Pathway: Mutant Tie-2 Causing Venous Malformations Signals a Distinct STAT Activation Response. Oncogene 18(1), 1-8.
62. N. Revencu and M. Vikkula (2006) Cerebral Cavernous Malformation: New Molecular and Clinical Insights. J. Med. Genet. 43(9), 716-721.
63. J. Sirvente, O. Enjolras, M. Wassef, E. Tournier-Lasserve and P. Labauge (2009) Frequency and Phenotypes of Cutaneous Vascular Malformations in a Consecutive Series of 417 Patients with Familial Cerebral Cavernous Malformations. J. Eur. Acad. Dermatol. Venereol. 23(9), 1066-1072.
64. A. Toll, E. Parera, A.M. Gimenez-Arnau, A. Pou, J. Lloreta, N. Limaye, et al. (2009) Cutaneous Venous Malformations in Familial Cerebral Cavernomatosis Caused by KRIT1 Gene Mutations. Dermatology 218(4), 307-313.
65. M.M. Cohen Jr. (2000) Klippel–Trenaunay Syndrome. Am. J. Med. Genet. 93(3), 171-175.
66. A. Couvineau, V. Wouters, G. Bertrand, C. Rouyer, B. Gerard, L.M. Boon, et al. (2008) PTHR1 Mutations Associated with Ollier Disease Result in Receptor Loss of Function. Hum. Mol. Genet. 17(18), 2766-2775.
67. M.E. Bowen, E.D. Boyden, I.A. Holm, B. Campos-Xavier, L. Bonafe, A. Superti-Furga, et al. (2011) Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome. PLoS Genet. 7(4), e1002050.
68. Amyere, M.; Wouters, V.; Boon, L. M., et al. Common Genomic Variations Identified in Maffucci Syndrome by Molecular Karyotyping. Mol. Syndromol. (in press)
69. Human Molecular Genetics Laboratory: http://www.deduveinstitute.be/genetics_of_human_diseases.php.
70. Center for Vascular Anomalies: http://www.saintluc.be/en/services/vascular-anomalies/index.php.
71. Vascular Anomaly Database: http://www.icp.ucl.ac.be/vikkula/VAdb