Analysis Of The Characteristics Of TIE2 Mutations And The Clinic Features Of Familial VMCM In China

Objective: To study on the pathogenesis and the types of the mutations of the familial venous malformation, cutaneuos and mucosal (VMCM) in China.Methods: The segments of Tie2 sequences were sequenced in 15 patients with VMCM and the control from a VMCM family. The statistics analysis[0] were usedχ2 and Fisher's exact probability,α=0.05 was the size of test.Results: Every patient with VMCM processed the C2545T mutation, but A2690C mutation was not detected. The endothelial cells of the patients were normal, vascular smooth muscle cells enclosing venous vessels thicken or defect in various degrees. All affected individuals had an affected parent, male-to-male transmission was present and 55% (18/33) of the at risk offspring were affected, VMCM appeared in every generation in the family.Conclusion: The C2545T mutation resulted in VMCM. Inspection of the pedigree suggested that VMCM was autosomal dominant inheritance. Histopathological changes were existed in the skin vascular smooth muscle of all the patients.