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.
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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.
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The authors have no financial conflict of interest.
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Wen-sheng Lu and Xiao-dong Zheng have contributed equally to this study.
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Lu, Ws., Zheng, Xd., Yao, Xh. et al. A novel MVK missense mutation in one Chinese family with disseminated superficial actinic porokeratosis. Mol Biol Rep 41, 7229–7233 (2014). https://doi.org/10.1007/s11033-014-3609-4
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DOI: https://doi.org/10.1007/s11033-014-3609-4