Variable somatic TIE2 mutations in half of sporadic venous malformations

Molecular Syndromology

Volumn 4, Issue 4, 2013, Pages 179-183

  Soblet, J ^a   Limaye, N ^a   Uebelhoer, M ^a   Boon, L M ^a,b   Vikkula, M ^a  

^a DE DUVE INSTITUTE   (Belgium)

^b UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

Author keywords

Hyperphosphorylation; Receptor tyrosine kinase; Somatic mutation; Sporadic; TIE2 TEK; Vascular malformation; Venous malformation

Indexed keywords

ANGIOPOIETIN RECEPTOR; COMPLEMENTARY DNA;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC SCREENING; HUMAN; HUMAN TISSUE; PRIORITY JOURNAL; PROTEIN STRUCTURE; VEIN MALFORMATION; BIOINFORMATICS; CONGENITAL BLOOD VESSEL MALFORMATION; GAIN OF FUNCTION MUTATION; GENE EXPRESSION; GENOTYPE PHENOTYPE CORRELATION; MISSENSE MUTATION; PROTEIN PHOSPHORYLATION; SOMATIC MUTATION;

EID: 84877293027     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000348327     Document Type: Article

References (18)

1. Boon LM, Vikkula M: Vascular anomalies, in Wolff K, Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, et al (eds): Fitzpatrick's Dermatology in General Medicine, ed 8 (McGraw-Hill Professional Publishing, New York 2012).
2. Boon LM, Mulliken JB, Enjolras O, Vikkula M: Glomuvenous malformation (glomangioma) and venous malformation: Distinct clinicopathologic and genetic entities. Arch Dermatol 140: 971-976 (2004). (Pubitemid 39062648)
3. Brouillard P, Boon LM, Revencu N, Berg J, Dompmartin, et al: Genotypes and phenotypes of 162 families with a Glomulin mutation. DOI:10.1159/000348675.
4. Brouillard P, Vikkula M: Genetic causes of vascular malformations. Hum Mol Genet 16 Spec No. 2:R140-149 (2007).
5. Calvert JT, Riney TJ, Kontos CD, Cha EH, Prieto VG, et al: Allelic and locus heterogeneity in inherited venous malformations. Hum Mol Genet 8: 1279-1289 (1999). (Pubitemid 29328997)
6. Dompmartin A, Acher A, Thibon P, Tourbach S, Hermans C, et al: Association of localized intravascular coagulopathy with venous malformations. Arch Dermatol 144: 873-877 (2008). (Pubitemid 352039739)
7. Dompmartin A, Ballieux F, Thibon P, Lequerrec A, Hermans C, et al: Elevated D-dimer level in the differential diagnosis of venous malformations. Arch Dermatol 145: 1239-1244 (2009).
8. Dompmartin A, Vikkula M, Boon LM: Venous malformation: Update on aetiopathogenesis, diagnosis and management. Phlebology 25: 224-235 (2010).
9. Hu HT, Huang YH, Chang YA, Lee CK, Jiang MJ, Wu LW: Tie2-R849W mutant in venous malformations chronically activates a functional STAT1 to modulate gene expression. J Invest Dermatol 128: 2325-2333 (2008).
10. Korpelainen EI, Karkkainen M, Gunji Y, Vikkula M, Alitalo K: Endothelial receptor tyrosine kinases activate the STAT signaling pathway: Mutant Tie-2 causing venous malformations signals a distinct STAT activation response. Oncogene 18: 1-8 (1999). (Pubitemid 29060573)
11. Limaye N, Boon LM, Vikkula M: From germline towards somatic mutations in the pathophysiology of vascular anomalies. Hum Mol Genet 18:R65-74 (2009a).
12. 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).
13. Morris PN, Dunmore BJ, Tadros A, Marchuk DA, Darland DC, et al: Functional analysis of a mutant form of the receptor tyrosine kinase Tie2 causing venous malformations. J Mol Med 83: 58-63 (2005). (Pubitemid 40169497)
14. Morris PN, Dunmore BJ, Brindle NP: Mutant Tie2 causing venous malformation signals through Shc. Biochem Biophys Res Commun 346: 335-338 (2006). (Pubitemid 43866001)
15. Niu XL, Peters KG, Kontos CD: Deletion of the carboxyl terminus of Tie2 enhances kinase activity, signaling, and function. Evidence for an autoinhibitory mechanism. J Biol Chem 277: 31768-31773 (2002). (Pubitemid 34968981)
16. Shewchuk LM, Hassell AM, Ellis B, Holmes WD, Davis R, et al: Structure of the Tie2 RTK domain: Self-inhibition by the nucleotide binding loop, activation loop, and C-terminal tail. Structure 8: 1105-1113 (2000). (Pubitemid 32667476)
17. Vikkula M, Boon LM, Carraway KL 3rd, Calvert JT, Diamonti AJ, et al: Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. Cell 87: 1181-1190 (1996). (Pubitemid 27010102)
18. Wouters V, Limaye N, Uebelhoer M, Irrthum A, Boon LM, et al: Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects. Eur J Hum Genet (2009).