Two cases of familial glomuvenous malformation and description of a novel pathogenic mutation in glomulin gene (GLMN)

Abstract

[EN] We report the glomulin pathogenic mutation c.1319G > A, p.Trp440*, which has not been reported to date associated with glomuvenous malformation patients. Defining the causative mutation is extremely important in genetic counseling. Since this entity has an autosomal-dominant inheritance, there is a 50% possibility of transmitting the mutation to the offspring, who can be severely affected depending on the temporal and spatial occurrence of the second-hit mutation.