caa a22 4500 445861533 CHVBK 20180317145444.0 cr unu---uuuuu 170323e20110301xx s 000 0 eng 10.1007/s00439-010-0929-x doi (NATIONALLICENCE)springer-10.1007/s00439-010-0929-x A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3 [Elektronische Daten] [Jing Luan, Zhenmin Niu, Jing Zhang, Meredith Crosby, Zhenghua Zhang, Xun Chu, Zhimin Wang, Wei Huang, Leihong Xiang, Zhizhong Zheng] 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. Springer-Verlag, 2010 Luan Jing Department of Dermatology, Huashan Hospital, Shanghai Medical College, Fudan University, 200040, Shanghai, China aut Niu Zhenmin Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center, 201203, Shanghai, China aut Zhang Jing Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center, 201203, Shanghai, China aut Crosby Meredith Department of Therapeutic Radiology, Yale University School of Medicine, New Haven, CT, USA aut Zhang Zhenghua Department of Dermatology, Huashan Hospital, Shanghai Medical College, Fudan University, 200040, Shanghai, China aut Chu Xun Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center, 201203, Shanghai, China aut Wang Zhimin Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center, 201203, Shanghai, China aut Huang Wei Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center, 201203, Shanghai, China aut Xiang Leihong Department of Dermatology, Huashan Hospital, Shanghai Medical College, Fudan University, 200040, Shanghai, China aut Zheng Zhizhong Department of Dermatology, Huashan Hospital, Shanghai Medical College, Fudan University, 200040, Shanghai, China aut Human Genetics Springer-Verlag 129/3(2011-03-01), 329-334 0340-6717 129:3<329 2011 129 439 https://doi.org/10.1007/s00439-010-0929-x text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-010-0929-x text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Luan Jing Department of Dermatology, Huashan Hospital, Shanghai Medical College, Fudan University, 200040, Shanghai, China aut NATIONALLICENCE 700 1- Niu Zhenmin Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center, 201203, Shanghai, China aut NATIONALLICENCE 700 1- Zhang Jing Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center, 201203, Shanghai, China aut NATIONALLICENCE 700 1- Crosby Meredith Department of Therapeutic Radiology, Yale University School of Medicine, New Haven, CT, USA aut NATIONALLICENCE 700 1- Zhang Zhenghua Department of Dermatology, Huashan Hospital, Shanghai Medical College, Fudan University, 200040, Shanghai, China aut NATIONALLICENCE 700 1- Chu Xun Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center, 201203, Shanghai, China aut NATIONALLICENCE 700 1- Wang Zhimin Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center, 201203, Shanghai, China aut NATIONALLICENCE 700 1- Huang Wei Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center, 201203, Shanghai, China aut NATIONALLICENCE 700 1- Xiang Leihong Department of Dermatology, Huashan Hospital, Shanghai Medical College, Fudan University, 200040, Shanghai, China aut NATIONALLICENCE 700 1- Zheng Zhizhong Department of Dermatology, Huashan Hospital, Shanghai Medical College, Fudan University, 200040, Shanghai, China aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 129/3(2011-03-01), 329-334 0340-6717 129:3<329 2011 129 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer