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Molecular Biology Reports

, Volume 41, Issue 11, pp 7229–7233 | Cite as

A novel MVK missense mutation in one Chinese family with disseminated superficial actinic porokeratosis

  • Wen-sheng Lu
  • Xiao-dong Zheng
  • Xiu-hua Yao
  • Lan-fang Zhang
  • Mu-Qiu Wang
  • Fa-Xing Jiang
  • Si-Ping Zhang
  • Bai Hu
Article

Abstract

Disseminated superficial actinic porokeratosis (DSAP) is a severe chronic autosomal dominant cutaneous disorder with high genetic heterogeneity. mevalonate kinase, (MVK) a gene know to play an important role in regulation of calcium-induced keratinocyte differentiation and proliferation, has recently been suggested as the disease-causing gene for DSAP. Here we report a direct sequencing analysis of this gene in 3 DSAP families, 6 sporadic cases, and 100 unrelated healthy controls. We detected a heterozygous T to A transition at nucleotide 205 in exon 3 of MVK gene in one familial case. This mutation will result in an amino acid change at codon 69 (P.Ser69Thr), which is from a serine codon (TCA) to a threonine codon (ACA). No such mutation was detected in the unaffected family members or the 100 unrelated healthy controls. Our results demonstrated a novel missense mutation in MVK gene. This will be valuable for the diagnosis of DSAP as well as for genetic counseling and prenatal diagnosis of affected families.

Keywords

Disseminated superficial actinic porokeratosis Mevalonate kinase gene Mutation analysis 

Notes

Acknowledgments

We would like to thank the patients for participating in the study. This study was funded by the National Natural Youth Science Foundation (81101185) and Anhui Provincial Natural Science Foundation in year 2015.

Conflict of interest

The authors have no financial conflict of interest.

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Copyright information

© Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  • Wen-sheng Lu
    • 1
  • Xiao-dong Zheng
    • 2
  • Xiu-hua Yao
    • 1
  • Lan-fang Zhang
    • 1
  • Mu-Qiu Wang
    • 3
  • Fa-Xing Jiang
    • 1
  • Si-Ping Zhang
    • 1
  • Bai Hu
    • 1
  1. 1.Department of DermatologyAnhui Provincial HospitalHefeiChina
  2. 2.Department of DermatologyAnhui Medical UniversityHefeiChina
  3. 3.Department of ElectrocardiographyAnhui Provincial HospitalHefeiChina

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