LEOPARD syndrome: A new polyaneurysm association and an update on the molecular genetics of the disease

Journal of Vascular Surgery

Volumn 39, Issue 4, 2004, Pages 897-900

  Yagubyan, Marineh ^a   Panneton, Jean M ^a   Lindor, Noralane M ^a   Conti, Emanuela ^b   Sarkozy, Anna ^b   Pizzuti, Antonio ^b  

^a MAYO CLINIC   (United States)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

POLITEF;

ADULT; ANEURYSM; CARDIOMYOPATHY; CASE REPORT; CLINICAL FEATURE; DEGENERATION; DISEASE SEVERITY; GENITAL MALFORMATION; GROWTH RETARDATION; HUMAN; HYPERTELORISM; LENTIGO; LEOPARD SYNDROME; MALE; MOLECULAR GENETICS; MORBIDITY; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RECURRENT DISEASE; REVIEW; VEIN GRAFT;

EID: 1642464754     PISSN: 07415214     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jvs.2003.11.030     Document Type: Article

References (18)

1. Voron DA, Hatfield HH, Kalkhoff RK. Multiple lentigines syndrome: case report and review of the literature. Am J Med 1976;60:447-56.
2. Panneton JM, Andrews JC, Hofer JM. Superior vena cava syndrome: relief with a modified saphenojugular bypass graft. J Vasc Surg 2001; 34:360-3.
3. Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, et al. Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet 2002;71:389-94.
4. Gorlin RJ, Anderson RC, Moller JH. The Leopard (multiple lentigines) syndrome revisited. Birth Defects 1971;07:110-5.
5. Gorlin RJ, Anderson RC, Blaw M. Multiple lentigenes syndrome. Am J Dis Child 1969;117:652-62.
6. Nordlund JJ, Lerner AB, Braverman IM, McGuire JS. The multiple lentigines syndrome. Arch Dermatol 1973;107:259-61.
7. Noonan JA. Noonan syndrome revisited. J Pediatr 1999;135:667-8.
8. Allanson JE, Upadhyaya M, Watson GH, Partington M, MacKenzie A, Lahey D, et al. Watson syndrome: is it a subtype of type 1 neurofibromatosis? J Med Genet 1991;28:752-6.
9. Woywodt A, Welzel J, Haase H, Duerholz A, Wiegand U, Potratz J, et al. Cardiomyopathic lentiginosis/LEOPARD syndrome presenting as sudden cardiac arrest. Chest 1998;113:1415-7.
10. St John Sutton MG, Tajik AJ, Giuliani ER, Gordon H, Su WP. Hypertrophic obstructive cardiomyopathy and lentiginosis: a little known neural ectodermal syndrome. Am J Cardiol 1981;47:214-7.
11. Ohkura T, Ohnishi Y, Kawada A, Tajima S, Ishibashi A, Ono K. Leopard syndrome associated with hyperelastic skin: analysis of collagen metabolism in cultured skin fibroblasts. Dermatology 1999;198:385-7.
12. Jurecka W, Gebhart W, Knobler R, Schmoliner R, Moslacher H. [The leopard syndrome, a cardio-cutaneous syndrome]. Wien Klin Wochenschr 1983;95:652-6.
13. Schievink WI, Michels VV, Mokri B, Piepgras DG, Perry HO. Brief report: a familial syndrome of arterial dissections with lentiginosis. N Engl J Med 1995;332:576-9.
14. Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001;29: 465-8.
15. Legius E, Schrander-Stumpel C, Schollen E, Pulles-Heintzberger C, Gewillig M, Fryns JP. PTPN11 mutations in LEOPARD syndrome. J Med Genet 2002;39:571-4.
16. Maheshwari M, Belmont J, Fernbach S, Ho T, Molinari L, Yakub I, et al. PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. Hum Mutat 2002;20:298-304.
17. Kroll J, Waltenberger J. The vascular endothelial growth factor receptor KDR activates multiple signal transduction pathways in porcine aortic endothelial cells. J Biol Chem 1997;272:32521-7.
18. Chang Y, Ceacareanu B, Dixit M, Sreejayan N, Hassid A. Nitric oxide-induced motility in aortic smooth muscle cells: role of protein tyrosine phosphatase SHP-2 and GTP-binding protein Rho. Circ Res 2002;91:390-7.