Abstract: Objective: To detect mutations of MVK gene in 2 familial patients with disseminated superficial actinic porokeratosis (DSAP). Methods: Polymerase chain reaction and direct sequencing were performed in the 2 DSAP families and 100 healthy controls to identify the mutations of MVK gene. Results: One novel splicing mutation（c.1094T>C） and one reported missense mutation （c.1094T>C） were identified. Conclusions: This study further confirms that MVK is associated with the onset of DSAP, which contributes further to the understanding of the pathogenesis of DSAP.

Key words: DSAP, MVK gene, mutations