Article

4 Iconography
Access to the text (HTML) Access to the text (HTML)
PDF Access to the PDF text
Advertising


Access to the full text of this article requires a subscription.
  • If you are a subscriber, please sign in 'My Account' at the top right of the screen.

  • If you want to subscribe to this journal, see our rates



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
REPORTS

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

Abstract
Background

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.

Objective

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

Methods

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.

Results

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.

Conclusion

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@@
EM-CONSULTE.COM is registrered at the CNIL, déclaration n° 1286925.
As per the Law relating to information storage and personal integrity, you have the right to oppose (art 26 of that law), access (art 34 of that law) and rectify (art 36 of that law) your personal data. You may thus request that your data, should it be inaccurate, incomplete, unclear, outdated, not be used or stored, be corrected, clarified, updated or deleted.
Personal information regarding our website's visitors, including their identity, is confidential.
The owners of this website hereby guarantee to respect the legal confidentiality conditions, applicable in France, and not to disclose this data to third parties.
Close
Article Outline
You can move this window by clicking on the headline