Milroy disease and the VEGFR-3 mutation phenotype

Journal of Medical Genetics

Volumn 42, Issue 2, 2005, Pages 98-102

  Brice, G ^a   Child, A H ^a   Evans, A ^a   Bell, R ^a   Mansour, S ^a   Burnand, K ^b   Sarfarazi, M ^c   Jeffery, S ^a   Mortimer, P ^a  

^a ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

VASCULOTROPIN RECEPTOR 3;

CELLULITIS; CLINICAL EXAMINATION; CLINICAL FEATURE; FEMALE; GENE MUTATION; HUMAN; LEG EDEMA; LEG VEIN; MAJOR CLINICAL STUDY; MALE; MILROY DISEASE; NAIL DISEASE; ONSET AGE; PAPILLOMATOSIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; REVIEW; TOE; VEIN DISEASE;

ADULT; AGE OF ONSET; FEMALE; HETEROZYGOTE DETECTION; HUMANS; LYMPHEDEMA; MALE; MUTATION; NAILS, MALFORMED; PAPILLOMA; PHENOTYPE; SAPHENOUS VEIN; UROGENITAL ABNORMALITIES; VARICOSE VEINS; VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR-3;

EID: 13444254036     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.024802     Document Type: Review

References (25)

1. Milroy WF. An undescribed variety of hereditary oedema. N Y Med J Nov 5, 1892.
2. Milroy WF. Chronic hereditary edema: Milroy's disease. JAMA 1928;91:1172-5.
3. Osler W. The principles and practice of medicine, 4th ed. New York: D Appleton and Co, 1901.
4. Mortimer PS. Managing lymphoedema. Clin Exp Dermatol 1995;13:499-505.
5. Meige H. Dystrophie oedemateuse hereditarie. Press Med 1898;6:341-3.
6. Ferrell RE, Levinson KL, Esman JH, Kimak MA, Lawrence EC, Barmada MM, Finegold DN. Hereditary lymphedema: evidence for linkage and genetic heterogeneity. Hum Mol Genet 1998;13:2073-8.
7. Evans AL, Brice G, Sotirova V, Mortimer P, Beninson J, Burnand K, Rosbotham J, Child A, Sarfarazi M. Mapping of primary congenital lymphedema to the 5q35.3 region. Am J Hum Genet 1999;64(2):547-55.
8. Karkkainen MJ, Ferrell RE, Lawrence EC, Kimak MA, Levinson KL, McTigue MA, Alitalo K, Finegold DN. Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. Nat Genet 2000;25(2):153-9.
9. Irrthum A, Karkkainen MJ, Devriendt K, Alitalo K, Vikkula M. Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 lyrosine kinase. Am J Hum Genet 2000;67(2):295-301.
10. Karkkainen MJ, Haiko P, Saino K, Partenen J, Taipale J, Petrova TV, Jeltsch M, Jackson DG, Talikka M, Rauvala H, Betsholtz C, Alitalo K. Vascular endothelial growth factor C is required for sprouting of the first lymphatic vessels from embryonic veins. Nat Immunol 2004;5(1):74-80.
11. Fang J, Dagenais SL, Erickson RP, Arlt MF, Glynn MW, Gorski JL, Seaver LH, Glover TW. Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. Am J Hum Genet 2000;67(6):1382-8.
12. Bell R, Brice G, Child AH, Murday VA, Mansour S, Sandy CJ, Collin JR, Brady AF, Callen DF, Burnand K, Mortimer P, Jeffery S. Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene. Hum Genet 2001;108(6):546-51.
13. Brice G, Mansour S, Bell R, Collin JR, Child AH, Bradv AF, Sarfarazi M, Burnand KG, Jeffery S, Mortimer P, Murday VA. Analysis of the phenolypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. J Med Genet 2002;39(7):478-83.
14. Irrthum A, Devriendt K, Chitayat D, Matthijs G, Glade C, Steijllen PM, Fryns J-P, Van Steensel MAM, Vikkula M. Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema- telangiectasia. Am J Hum Genet 2003;72:1470-8.
15. Holberg C, Erickson R, Bernas M, Witte M, Fultz K, Andrade M, Witte C. Segregation analyses and a genome wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphoedema families. Am J Med Genet 2001;98:303-12.
16. Evans AL, Bell R, Brice G, Comeglio P, Lipede, C, Jeffery S, Mortimer P, Sarfarazi M, Child AH. Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema. J Med Genet 2003;40(9):697-703.
17. Burnand KG, Mortimer PS, Partsch H. Diagnosis and investigation of lymphoedema. In: Browse NL, Burnand KG, Mortimer PS, eds. Diseases of the lymphatics. London: Arnold, 2003:110-50.
18. Levinson KL, Feingold E, Ferrell RE, Glover TW, Traboulsi EI, Finegold DN. Age of onset in hereditary lymphedema. J Pediatr 2003;142:704-8.
19. Dumont DJ, Jussila L, Taipale J, Lymboussaki A, Mustonen T, Pajusola K, Breitman M, Alitalo K. Cardiovascular failure in mouse embryos deficient in VEGF receptor-3. Science 1998;282(5390):946-9.
20. Makinen T, Jussila L, Veikkola T, Karpanen T, Kettunen MI, Pulkkanen KJ, Kauppinen R, Jackson DG, Kubo H, Nishikawa S, Yla-Herttuala S, Alitalo K. Inhibition of lymphangiogenesis with resulting lymphedema in transgenic mice expressing soluble VEGF receptor-3. Nat Med 2001;7(2):199-205.
21. Bollinger A, Isenring G, Franzeck UK, Brunner U. Aplasia of superficial lymphatic capillaries in hereditary and connatal lymphedema (Milroy's disease). Lymphology 1983;16:27-30.
22. Burnand KG, Mortimer PS, Partsch H. Diagnosis and investigation of lymphoedema. In: Browse NL, Burnand KG, Mortimer PS, eds. Diseases of the lymphatics. London: Arnold, 2003:123.
23. Moore KL, Persaud TVN, eds. The developing human, 7th ed. Philadelphia: Saunders, 2003.
24. Saaristo A, Veikkola T, Tammela T, Enholm B, Karkkainen MJ, Pajusola K, Bueler H, Yla-Herttuala S, Alitalo K. Lymphangiogenic gene therapy with minimal blood vascular side effects. J Exp Med 2002;196(6):719-30.
25. Yoon Y, Murayama T, Gravereaux E, Tkebuchava T, Silver M, Curry C, Wecker A, Kirchmair R, Hu CS, Kearney M, Ashare A, Jackson D, Kubo H, Isner J, Losordo DW. VEGF-C gene therapy augments post-natal lymphangiogenesis and ameliorates secondary lymphedema. J Clin Invest 2003;111:717-25.