Variable somatic TIE2 mutations in half of sporadic venous malformations
(2013) Molecular Syndromology — Vol. 4, n° 4, p. 179-183 (2013)
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- Abstract
- Venous malformations (VMs) are the most frequent vascular malformations referred to specialized vascular anomaly cen- ters. A rare (1–2%) familial form, termed cutaneomucosal ve- nous malformation (VMCM), is caused by gain-of-function mutations in TIE2. More recently, sporadic VMs, character- ized by the presence of large unifocal lesions, were shown to be caused by somatic mutations in TIE2. These include a fre- quent L914F change, and a series of double mutations in cis. All of which cause ligand-independent receptor hyperphos- phorylation in vitro. Here, we expanded our study to assess the range of mutations that cause sporadic VM. To test for somatic changes, we screened the entire coding region of TIE2 in cDNA from resected VMs by direct sequencing. We detected TIE2 mutations in 17/30 (56.7%) of the samples. In addition to previously detected mutations, we identified 7 novel somatic intracellular TIE2 mutations in sporadic VMs, including 3 that cause premature protein truncation.
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Soblet, J., Limaye, N., Uebelhoer, M., Dompmartin, A., Vanwijck, R., Boon, L., & Vikkula, M. (2013). Variable somatic TIE2 mutations in half of sporadic venous malformations. Molecular Syndromology, 4(4), 179-183. https://doi.org/10.1159/000348327 (Original work published 2013)