A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3 |
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Authors: | Jing Luan Zhenmin Niu Jing Zhang Meredith E Crosby Zhenghua Zhang Xun Chu Zhimin Wang Wei Huang Leihong Xiang Zhizhong Zheng |
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Institution: | (1) Department of Dermatology, Huashan Hospital, Shanghai Medical College, Fudan University, 200040 Shanghai, China;(2) Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center, 201203 Shanghai, China;(3) Department of Therapeutic Radiology, Yale University School of Medicine, New Haven, CT, USA; |
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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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