期刊
MOLECULAR SYNDROMOLOGY
卷 4, 期 4, 页码 179-183出版社
KARGER
DOI: 10.1159/000348327
关键词
Hyperphosphorylation; Receptor tyrosine kinase; Somatic mutation; Sporadic; TIE2/TEK; Vascular malformation; Venous malformation
资金
- Interuniversity Attraction Poles
- Belgian French Community Ministry
- National Institute of Health [P01 AR048564]
- F.R.S.-FNRS (Fonds de la Recherche Scientifique)
- la Federation Wallonie-Bruxelles
- la Lotterie nationale, Belgium
- Pierre M. fellowship
- Televie
Venous malformations (VMs) are the most frequent vascular malformations referred to specialized vascular anomaly centers. A rare (1-2%) familial form, termed cutaneomucosal venous malformation (VMCM), is caused by gain-of-function mutations in TIE2. More recently, sporadic VMs, characterized by the presence of large unifocal lesions, were shown to be caused by somatic mutations in TIE2. These include a frequent 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. Copyright (C) 2013 S. Karger AG, Basel
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