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Disseminated superficial actinic porokeratosis (DSAP) is an uncommon autosomal dominant keratinization disorder characterized by multiple superficial keratotic lesions with raised, hyperkeratotic borders. In a six-generation Chinese pedigree, genome-wide linkage yielded a maximum LOD score of 5.56 (θ=0.00) at D12S79, and sequencing of the 12q24.1–24.2 interval identified a heterozygous SART3 c.1771G>A (p.Val591Met) variant in all affected individuals, absent in unaffected relatives and controls ([PMID:15840095]).
No disease-specific functional assays have been reported for DSAP. Existing studies demonstrate SART3’s role in pre-mRNA splicing and interaction with RNPS1 and YB-1, but do not link these mechanisms to porokeratosis pathogenesis. Therefore, current evidence is insufficient to move beyond a limited association.
Key Take-home: A single AD family links SART3 c.1771G>A (p.Val591Met) to DSAP; additional replication and functional work are needed to confirm pathogenicity.
Gene–Disease AssociationLimitedSingle autosomal dominant six-generation pedigree with co-segregating variant ([PMID:15840095]) Genetic EvidenceLimitedOne AD variant (c.1771G>A (p.Val591Met)) segregating in a single family ([PMID:15840095]) Functional EvidenceNo evidenceNo functional studies linking SART3 to DSAP pathogenesis |