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Journal of the American Academy of Dermatology
Volume 52, n° 6
pages 972-976 (juin 2005)
Doi : 10.1016/j.jaad.2005.01.099
accepted : 12 January 2005

Two closely linked variations in actin cytoskeleton pathway in a Chinese pedigree with disseminated superficial actinic porokeratosis

Zheng-Hua Zhang, MD a, b, Wei Huang, PhD b, Zhen-Min Niu, BS b, Wei-Da Liu, MD c, Lei-Hong Xiang, MD a, Wen-Tao Yuan, BS b, Jing-Jun Zhao, MD c, Chao-Ying Gu, MD a, Bao Chai, MD c, Fa-Xing Jiang, MD c, Jing Zhang, BS b, Shi-Jie Xu, PhD b, Zhi-Zhong Zheng, MD a,
a From the Department of Dermatology, Hua Shan Hospital, Shanghai Medical College, Fu Dan University, Fu Dan University, Shanghai 
b Chinese National Human Genome Center at Shanghai and Health Science Center, SIBS, CAS, and SSMU, Shanghai 
c Institute of Dermatology, Chinese Academy of Medical Sciences, Peking Union Medical College, Nanjing 

Correspondence to: Zhi-Zhong Zheng, MD, Department of Dermatology, Hua Shang Hospital, Fu Dan University; Shanghai Medical College, Fu Dan University, 12 Wulumuqi Rd, Shanghai, 200040, PR China.

Shanghai and Nanjing, China


Disseminated superficial actinic porokeratosis (DSAP) is an uncommon autosomal dominant chronic keratinization disorder, characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border. Recently, SSH1 was identified as the DSAP candidate gene.


Our purpose was to determine the locus of DSAP and identify the candidate gene(s) of the disease.


Genome-wide scanning and linkage analysis were performed in a 6-generation Chinese family with DSAP. The coding exons and promoter region of the candidate genes were screened for the nucleotide variations.


A missense mutation (p.Ser63Asn) in SSH1 and a variation (dbSNP3759383: G>A) in the promoter region of ARPC3 were closely linked with DSAP in the pedigree.


Both SSH1 and ARPC3 are involved in the actin cytoskeleton pathway and interacted with adherent junctions in the epidermal cells. We suggested that cytoskeleton disorganization in epidermal cells was likely associated with the pathogenesis of DSAP.

The full text of this article is available in PDF format.

Abbreviations used : ADF, ARPC3 , DSAP, SSH1

 Supported by the Chinese High-Tech Program (863) (2002BA711A10), Shanghai Science and Technology Development Fund (03DJ14008), China Postdoctoral Science Foundation.
Conflicts of interest: None.
Reprints not available from the authors.

© 2005  American Academy of Dermatology, Inc.@@#104156@@
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