Cutaneomucosal venous malformations are linked to the TIE2 mutation in a large Chinese family

Abstract Mutations in TIE2/TEK gene have been identified as the major cause for cutaneomucosal venous malformations (VMCM) that were previously reported to occur in Caucasian families. We report here for the first time a Chinese VMCM family of 19 affected individuals in five generations with multiple vascular lesions on their oral mucosa and extremities. Histological analyses showed that the lesions comprised of irregular vascular spaces with a continuous layer of endothelial cells and variable smooth muscle cells. Although these VMCM characters were consistent with those in Caucasian families, difference was observed in hyperplastic SMC layer and vascular walls. Haplotype analyses and DNA sequencing indicated that both the mutation‐associated haplotype and a R849W (c.2545C>T) change of the TIE2 gene cosegregated perfectly with the VMCM phenotype. This result suggested that, like those in Caucasian families, the R849W mutation in TIE2 could be one of the major causes for VMCM in Asian families.