title: Two closely linked variations in actin cytoskeleton pathway in a Chinese pedigree with disseminated superficial actinic porokeratosis.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Dermatology, Hua Shan Hospital, Shanghai Medical College, Fu Dan University, Shanghai, PR China.
authors.forename: Zheng-Hua
authors.initials: ZH
authors.lastname: Zhang
authors.forename: Wei
authors.initials: W
authors.lastname: Huang
authors.forename: Zhen-Min
authors.initials: ZM
authors.lastname: Niu
authors.forename: Wei-Da
authors.initials: WD
authors.lastname: Liu
authors.forename: Lei-Hong
authors.initials: LH
authors.lastname: Xiang
authors.forename: Wen-Tao
authors.initials: WT
authors.lastname: Yuan
authors.forename: Jing-Jun
authors.initials: JJ
authors.lastname: Zhao
authors.forename: Chao-Ying
authors.initials: CY
authors.lastname: Gu
authors.forename: Bao
authors.initials: B
authors.lastname: Chai
authors.forename: Fa-Xing
authors.initials: FX
authors.lastname: Jiang
authors.forename: Jing
authors.initials: J
authors.lastname: Zhang
authors.forename: Shi-Jie
authors.initials: SJ
authors.lastname: Xu
authors.forename: Zhi-Zhong
authors.initials: ZZ
authors.lastname: Zheng
mesh_terms: D000199:Actins / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002681:China; D003598:Cytoskeletal Proteins / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D017499:Porokeratosis / Q000235:genetics*
chemical_list: D000199:Actins; D003598:Cytoskeletal Proteins