Abstract: Objective: To discover novel gene mutation responsible for porokeratosis by exon sequencing combined with somatic mutation detection. Methods: Peripheral blood DNA was collected for whole exon sequencing from 29 patients with porokeratosis who had failed to identify mutations by target region sequencing on known genes, and DNA was extracted from somatic cells for Sanger sequencing. Results: Splice region mutations were detected in the peripheral blood DNA of three patients by whole-exome sequencing, including one novel identified mutation on the MVK gene. Mutations were detected in the somatic DNA of 5 patients by Sanger sequencing. Conclusion: In this study, three splice site mutations were identified, including a novel mutation, and five cases of simple somatic mutations were found, enriching the mutation spectrum and mutation forms of porokeratosis genes, and there was no novel mutated genes identified.

Key words: porokeratosis, somatic mutations, splice region mutations