title: Detection of a novel missense mutation in the mevalonate kinase gene in one Chinese family with DSAP.
abstract: Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis and a severe chronic autosomal dominant cutaneous disorder with high genetic heterogeneity. Recently, the mevalonate kinase (MVK) gene has been identified as a candidate gene responsible for DSAP and multiple mutations have been reported. Here, we report identification of a novel missense mutation in the MVK gene in a Chinese family with DSAP. A 50-year-old male was diagnosed as proband of DSAP based on the clinical and histological findings, which show numerous hyperpigmented macules by physical examination and cornoid lamella by skin biopsy. Similar skin symptoms were also observed in his father, who died many years ago. We prepared genomic DNA from the proband, unaffected individuals from his family members, as well as 100 unrelated healthy controls. PCR was then conducted using the above genomic DNA as template and the MVK gene-specific primers. The PCR product was subjected to direct sequencing and the sequence was compared to that of MVK gene within the NCBI database. We detected a heterozygous C to G transition at nucleotide 643 in exon 7 of MVK gene of the proband. This will result in an amino acid change at codon 215 (P.Arg215Gly.), which is from an arginine codon (CGA) to a Glycine codon (GGA). We did not detect any mutation in the unaffected family members or the 100 unrelated healthy controls, demonstrating that this is a novel missense mutation in MVK gene and therefore, contributes to the molecular diagnosis of DSAP.
authors.affiliation: Department of Dermatology, Affiliated Provincial Hospital, Anhui Medical University Hefei, Anhui, 230001, China.
authors.forename: Wen-Sheng
authors.initials: WS
authors.lastname: Lu
authors.affiliation: Department of Dermatology, Anhui Medical University Hefei, 230032, China.
authors.forename: Xiao-Dong
authors.initials: XD
authors.lastname: Zheng
authors.affiliation: Department of Dermatology, Affiliated Provincial Hospital, Anhui Medical University Hefei, Anhui, 230001, China.
authors.forename: Xiu-Hua
authors.initials: XH
authors.lastname: Yao
authors.affiliation: Department of Dermatology, Affiliated Provincial Hospital, Anhui Medical University Hefei, Anhui, 230001, China.
authors.forename: Lan-Fang
authors.initials: LF
authors.lastname: Zhang
authors.affiliation: Department of Dermatology, Affiliated Provincial Hospital, Anhui Medical University Hefei, Anhui, 230001, China.
authors.forename: Bai
authors.initials: B
authors.lastname: Hu
authors.affiliation: Department of Hematology and Hematological Laboratory Science, School of Medical Science and Laboratory Medicine, Jiangsu University Zhenjiang 212013, China.
authors.forename: Yao-Juan
authors.initials: YJ
authors.lastname: Lu
mesh_terms: D044466:Asian People / Q000235:genetics*; D001706:Biopsy; D016022:Case-Control Studies; D002681:China; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017499:Porokeratosis / Q000201:enzymology / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D011237:Predictive Value of Tests; D012867:Skin / Q000473:pathology
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase
keywords: Disseminated superficial actinic porokeratosis; MVK gene; mutation