BACKGROUND: Our previous study has identified two loci for disseminated superficial actinic porokeratosis (DSAP), but the genes responsible are still unknown. OBJECTIVES: To narrow down the candidate regions and to assess candidate genes. METHODS: A genome-wide scan and linkage analysis were carried out in a newly collected five-generation Chinese family with DSAP. In addition, six candidate genes were screened for possible DSAP-associated mutations. RESULTS: DSAP in this family was associated with chromosome 12q. Fine mapping and haplotype construction refined the DSAP1 locus to a 4.4-cM interval. No disease-associated mutation was detected in CRY1, C4ST1, TXNRD1, HCF2, CMKLR1 or KIAA0789 genes. CONCLUSIONS: The DSAP1 locus was localized to a 4.4-cM interval at chromosome 12q23.2-24.1. CRY1, C4ST1, TXNRD1, HCF2, CMKLR1 and KIAA0789 genes were not associated with DSAP1.
BACKGROUND: Our previous study has identified two loci for disseminated superficial actinic porokeratosis (DSAP), but the genes responsible are still unknown. OBJECTIVES: To narrow down the candidate regions and to assess candidate genes. METHODS: A genome-wide scan and linkage analysis were carried out in a newly collected five-generation Chinese family with DSAP. In addition, six candidate genes were screened for possible DSAP-associated mutations. RESULTS: DSAP in this family was associated with chromosome 12q. Fine mapping and haplotype construction refined the DSAP1 locus to a 4.4-cM interval. No disease-associated mutation was detected in CRY1, C4ST1, TXNRD1, HCF2, CMKLR1 or KIAA0789 genes. CONCLUSIONS: The DSAP1 locus was localized to a 4.4-cM interval at chromosome 12q23.2-24.1. CRY1, C4ST1, TXNRD1, HCF2, CMKLR1 and KIAA0789 genes were not associated with DSAP1.
Authors: Neal Bhatia; Andrew Blauvelt; Marc Brown; Whitney High; Craig T Leonardi; Ted Rosen; Linda Stein Gold; Eggert Stockfleth; Bruce Strober; Neil A Swanson; George Martin Journal: J Clin Aesthet Dermatol Date: 2014-07