2. Academic Validation
  3. A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis

A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis

  • Br J Dermatol. 2005 Apr;152(4):658-63. doi: 10.1111/j.1365-2133.2005.06443.x.
Z H Zhang 1,  Z M Niu,  W T Yuan,  J J Zhao,  F X Jiang,  J Zhang,  B Chai,  F Cui,  W Chen,  C H Lian,  L H Xiang,  S J Xu,  W D Liu,  Z Z Zheng,  W Huang
Affiliations

Affiliation

  • 1 Department of Dermatology, Huashan Hospital, Fudan University, Shanghai, 200040, China.
PMID: 15840095 DOI: 10.1111/j.1365-2133.2005.06443.x
Abstract

Background: Disseminated superficial actinic porokeratosis (DSAP) is an uncommon autosomal dominant chronic disorder of keratinization, characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border. Thus far, although two loci for DSAP have been identified, and the genetic basis and pathogenesis of this disorder have not been elucidated.

Objectives: To determine the locus of DSAP and identify the candidate gene(s) of the disease.

Methods: Genome-wide scan and linkage analysis were performed in a six-generation Chinese family with DSAP. The coding exons of the candidate genes were sequenced to analyse and detect the nucleotide variations.

Results: Linkage analysis showed that the maximum two-point lod score of 5.56 was obtained with the marker D12S79 at a recombination fraction theta of 0.00. Haplotype analysis defined the critical region for DSAP between D12S330 and D12S1612 on 12q24.1-24.2. By sequence analysis, we found a Val591Met mutation in SART3 in all affected individuals of the family.

Conclusion: SART3 is a candidate gene for DSAP, and is possibly involved in the pathogenesis of DSAP.

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