title: A novel MVK missense mutation in one Chinese family with disseminated superficial actinic porokeratosis.
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.
authors: Department of Dermatology, Anhui Provincial Hospital, No. 17, Lujiang Road, Hefei, 230001, China, luws2004@sina.com.
authors: Wen-sheng
authors: WS
authors: Lu
authors: Xiao-dong
authors: XD
authors: Zheng
authors: Xiu-hua
authors: XH
authors: Yao
authors: Lan-fang
authors: LF
authors: Zhang
authors: Mu-Qiu
authors: MQ
authors: Wang
authors: Fa-Xing
authors: FX
authors: Jiang
authors: Si-Ping
authors: SP
authors: Zhang
authors: Bai
authors: B
authors: Hu
mesh_terms: D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D019295:Computational Biology; D005190:Family; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017499:Porokeratosis / Q000235:genetics*; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase