Identification of two novel

Background: Porokeratosis (PK) is an autosomal dominant inherited disorder characterized by abnormal epidermal keratinization, primarily resulting from mutations in four genes associated with the mevalonate pathway: mevalonate decarboxylase ( Purpose: The purpose of this study was to identify the causative mutations in seven sporadic cases of PK. Patients and methods: Clinical data and blood samples were collected from these seven sporadic cases. To identify pathogenic gene mutations in the patients, both whole-exome and Sanger sequencing were conducted. Bioinformatics resources such as PROVEAN, SIFT, PolyPhen-2, and Mutation Taster were employed to assess the pathogenicity of the identified mutations. Results: This study included seven sporadic cases of PK, comprising two cases of disseminated superficial actinic porokeratosis (DSAP), and five cases of disseminated superficial porokeratosis (DSP). We identified a total of five heterozygous mutations, including two novel Conclusion: This research has expanded the database of mevalonate pathway genes associated with PK, thereby improving our comprehension of the fundamental mechanisms involved.