Germline mutations in RASA1 are not found in patients with Klippel-Trenaunay syndrome or capillary malformation with limb overgrowth

Molecular Syndromology

Volumn 4, Issue 4, 2013, Pages 173-178

  Revencu, N ^a,b   Boon, L M ^a,c   Dompmartin, A ^d   Rieu, P ^e   Busch, W L ^g   Dubois, J ^j   Forzano, F ^m   Van Hagen, J M ^f   Halbach, S ^h   Kuechler, A ⁿ   Lachmeijer, A M A ^f   Lahde J ^l   Russell, L ^k   Simola, K O J ^l   Mulliken, J B ⁱ   Vikkula, M ^a  

^a DE DUVE INSTITUTE   (Belgium)

^b Center for Human Genetics   (Belgium)

^c UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^d CAEN UNIVERSITY HOSPITAL   (France)

^e RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^f VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^g Northwest Perinatal Center   (United States)

^h UNIVERSITY OF CHICAGO   (United States)

ⁱ BOSTON CHILDREN S HOSPITAL   (United States)

^j UNIVERSITY OF MONTREAL   (Canada)

^k MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^l TAMPERE UNIVERSITY HOSPITAL   (Finland)

^m GALLIERA HOSPITAL   (Italy)

ⁿ UNIVERSITY HOSPITAL ESSEN   (Germany)

more..

Author keywords

Capillary malformation; Capillary malformation arteriovenous malformation; Klippel Trenaunay syndrome; Overgrowth; p120RASGAP; Parkes Weber syndrome; RASA1

Indexed keywords

CYTOPLASM PROTEIN;

ADULT; ANGIOOSTEOHYPERTROPHY SYNDROME; ARTERIOVENOUS MALFORMATION; ARTICLE; CAPILLARY; CHILD; CLINICAL ARTICLE; CONGENITAL MALFORMATION; FEMALE; FISTULA; GENE; GENE MUTATION; HETEROZYGOTE; HUMAN; LEG; LOSS OF FUNCTION MUTATION; MALE; MICROANGIOPATHY; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RASA1 GENE; SCHOOL CHILD; ADOLESCENT; CAPILLARY MALFORMATION; CONGENITAL BLOOD VESSEL MALFORMATION; EXON; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC SCREENING; HYPERTROPHY; INTRON; LIMB HYPERTROPHY; LYMPHATIC MALFORMATION; MAJOR CLINICAL STUDY; MIDDLE AGED; PHENOTYPE; YOUNG ADULT;

EID: 84877255409     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000349919     Document Type: Article

References (31)

1. Aelvoet GE, Jorens PG, Roelen LM: Genetic aspects of the Klippel-Trenaunay syndrome. Br J Dermatol 126: 603-607 (1992).
2. Alomari AI, Orbach DB, Mulliken JB, Bisdorff A, Fishman SJ, et al: Klippel-Trenaunay syndrome and spinal arteriovenous malformations: An erroneous association. AJNR Am J Neuroradiol 31: 1608-1612 (2010).
3. Barker KT, Foulkes WD, Schwartz CE, Labadie C, Monsell F, et al: Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes? J Med Genet 43: 613-614 (2006). (Pubitemid 44048769)
4. Boyd JB, Mulliken JB, Kaban LB, Upton J 3rd, Murray JE: Skeletal changes associated with vascular malformations. Plast Reconstr Surg 74: 789-797 (1984).
5. Ceballos-Quintal JM, Pinto-Escalante D, Castillo-Zapata I: A new case of Klippel-Trenaunay-Weber (KTW) syndrome: Evidence of autosomal dominant inheritance. Am J Med Genet 63: 426-427 (1996).
6. Cohen MM Jr: Klippel-Trenaunay syndrome. Am J Med Genet 93: 171-175 (2000).
7. Craven N, Wright AL: Familial Klippel-Trenaunay syndrome: A case report. Clin Exp Dermatol 20: 76-79 (1995).
8. Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, et al: Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 73: 1240-1249 (2003). (Pubitemid 38037418)
9. Enjolras O, Chapot R, Merland JJ: Vascular anomalies and the growth of limbs: A review. J Pediatr Orthop B 13: 349-357 (2004). (Pubitemid 39507062)
10. Enjolras O, Wassef M, Chapot R: Introduction: ISSVA classification, in Press CU (ed): Color Atlas of Vascular Tumors and Vascular Malformations, pp 1-11 (University Press, Cambridge 2007).
11. Gutierrez S, Magano L, Delicado A, Mori MA, de Torres ML, et al: The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population. Am J Med Genet A 140: 2832-2833 (2006). (Pubitemid 44865075)
12. Klippel M, Trenaunay P: Memoires originaux: Du noevus variqueux osteo-hypertrophique. Arch Gen Med III:641-672 (1900).
13. Kulungowski AM, Fishman SJ: Management of combined vascular malformations. Clin Plast Surg 38: 107-120 (2011).
14. Kurek KC, Luks VL, Ayturk UM, Alomari AI, Fishman SJ, et al: Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet 90: 1108-1115 (2012).
15. Limaye N, Boon LM, Vikkula M: From germline towards somatic mutations in the pathophysiology of vascular anomalies. Hum Mol Genet 18:R65-R74 (2009a).
16. Limaye N, Wouters V, Uebelhoer M, Tuominen M, Wirkkala R, et al: Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. Nat Genet 41: 118-124 (2009b).
17. Lindenauer SM: The Klippel-Trenaunay syndrome: Varicosity, hypertrophy and hemangioma with no arteriovenous fistula. Ann Surg 162: 303-314 (1965).
18. Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, et al: 2011. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 365: 611-619 (2011).
19. Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, et al: Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA . Nat Genet 44: 928-933 (2012).
20. Mulliken JB, Young AE: Vascular Birthmarks: Hemangiomas and Malformations (WB Saunders, Philadelphia 1988).
21. Oduber CE, van der Horst CM, Hennekam RC: Klippel-Trenaunay syndrome: Diagnostic criteria and hypothesis on etiology. Ann Plast Surg 60: 217-223 (2008). (Pubitemid 351158723)
22. Parkes Weber F: Angioma formation in connection with hypertrophy of limbs and hemihypertrophy. Br J Dermatol 19: 231-235 (1907).
23. Parkes Weber F: Haemangiectatic hypertrophies of the foot and lower extremity. Med Press (Lond) 136: 261 (1908).
24. Parkes Weber F: Hemangiectatic hypertrophy of limbs-congenital phlebarteriectasis and socalled congenital varicose veins. Br J Child Dis 15: 13-17 (1918).
25. Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, et al: Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat 29: 959-965 (2008). (Pubitemid 351951290)
26. Riviere JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, et al: De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 44: 934-940 (2012).
27. Servelle M: Klippel and Trenaunay's syndrome. 768 operated cases. Ann Surg 201: 365-373 (1985). (Pubitemid 15010467)
28. Tian XL, Kadaba R, You SA, Liu M, Timur AA, et al: Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Nature 427: 640-645 (2004). (Pubitemid 38248484)
29. Viljoen DL: Klippel-Trenaunay-Weber syndrome (angio-osteohypertrophy syndrome).
30. J Med Genet 25: 250-252 (1988).
31. Whelan AJ, Watson MS, Porter FD, Steiner RD: 1995. Klippel-Trenaunay- Weber syndrome associated with a 5: 11 balanced translocation. Am J Med Genet 59: 492-494 (1995).