G2Cdb::Human Disease report

Disease id
D00000297
Name
Disseminated superficial actinic porokeratosis
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001786 ARPC3
actin related protein 2/3 complex, subunit 3, 21kDa
Y (15928614) Single nucleotide polymorphism (SNP) Y

References

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

    Zhang ZH, Huang W, Niu ZM, Liu WD, Xiang LH, Yuan WT, Zhao JJ, Gu CY, Chai B, Jiang FX, Zhang J, Xu SJ and Zheng ZZ

    Department of Dermatology, Hua Shan Hospital, Shanghai Medical College, Fu Dan University, Shanghai, PR China.

    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.

    Journal of the American Academy of Dermatology 2005;52;6;972-6

Literature (1)

Pubmed - human_disease

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

    Zhang ZH, Huang W, Niu ZM, Liu WD, Xiang LH, Yuan WT, Zhao JJ, Gu CY, Chai B, Jiang FX, Zhang J, Xu SJ and Zheng ZZ

    Department of Dermatology, Hua Shan Hospital, Shanghai Medical College, Fu Dan University, Shanghai, PR China.

    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.

    Journal of the American Academy of Dermatology 2005;52;6;972-6

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

Cookies Policy | Terms and Conditions. This site is hosted by Edinburgh University and the Genes to Cognition Programme.