Abstract: Objective: To detect the mutation of a sporadic case with disseminated superficial porokeratosis (DSP) limited to lower extremities. Methods: DNA was extracted from blood samples of the patient and the product was sequenced by whole-exon sequencing through Illumina HiSeq. The sequencing results were compared with the disease genes of porokeratosis previously reported and the mutation was verified by Sanger sequencing in 100 normal controls. Results: A splice-site mutation (c.1040-2A>C) of intron 10 in MVK gene was found, and the mutation was not detected in all normal controls. The mutation was the co-mutation site of DSP and disseminated superficial actinic porokeratosis. Conclusion: MVK gene mutation (c.1040-2A>C) is associated with DSP in the patient.

Key words: porokeratosis, mutation, MVK gene