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Disseminated superficial actinic porokeratosis (DSAP) is a rare autosomal dominant genodermatosis characterised by annular, atrophic-centred lesions with a peripheral ridge on sun-exposed skin. Exome sequencing in two Chinese pedigrees without MVK mutations identified SLC17A9 as a novel DSAP gene; a missense variant c.932G>A (p.Arg311Gln) cosegregated with disease in Family 1, and a second missense variant c.25C>T (p.Arg9Cys) was detected in an independent pedigree (PMID:25180256).
Both variants localise to conserved regions of the vesicular nucleotide transporter and are absent in unaffected relatives and control databases. Segregation analysis was performed in additional family members, though the exact number of informative meioses was not specified. No functional assays have yet modelled the impact of these variants in keratinocyte biology or porokeratosis pathology, limiting mechanistic insight.
Gene–Disease AssociationLimitedAssociation based on two pedigrees (two probands) with cosegregating missense variants in SLC17A9 ([PMID:25180256]) Genetic EvidenceLimitedTwo novel missense variants identified in two independent families with autosomal dominant DSAP Functional EvidenceLimitedNo disease-relevant functional assays or model systems reported for DSAP |