Abstract
Disseminated superficial actinic porokeratosis (DSAP) is an uncommon autosomal dominant keratinization disorder with genetic heterogeneity characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border. Thus far, there have been three susceptible loci determined for DSAP and one locus for disseminated superficial porokeratosis (DSP), i.e. 12q23.2-24.1, 15q25.1-26.1, 1p31.3-p31.1 and 18p11.3. Moreover, the locus for porokeratosis palmaris plantaris et disseminata (PPPD) was mapped to 12q24.1-24.2, which overlapped with the first DSAP locus. Following the exclusion of these known loci in a four-generation Chinese DSAP family, we performed a genome-wide linkage analysis and identified a new locus on chromosome 16q24.1-24.3. The maximum two-point LOD score of 3.73 was obtained with the marker D16S3074 at a recombination fraction θ of 0.00. Haplotype analysis defined the critical 17.4-cM region for DSAP between D16S3091 and D16S413. This is regarded to be the forth locus for DSAP (DSAP4). ATP2C1 was sequenced as a candidate gene, however, no mutation was found. Further investigation for the genetic basis of DSAP is under way.
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Acknowledgments
This work is sponsored by the Grants from Chinese High-Tech Program (2009AA022709) and Shanghai Science and Technology Committee (09DZ2291900), Shanghai Pujiang Program and the Scientific Research Foundation for the Returned Overseas Chinese Scholars, State Education Ministry. We thank all the family members who participated in this study. We also thank Dr. Fa-Xing Jiang and Dr. Jing-Jun Zhao for his enthusiastic support and great contribution to this project.
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The authors declare that they have no conflict of interest.
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J. Luan and Z. Niu can be treated as joint first authors.
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Luan, J., Niu, Z., Zhang, J. et al. A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3. Hum Genet 129, 329–334 (2011). https://doi.org/10.1007/s00439-010-0929-x
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DOI: https://doi.org/10.1007/s00439-010-0929-x