Detection of a novel missense mutation in the mevalonate kinase gene in one Chinese family with DSAP.
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.
['Lu|Wen-Sheng|WS|', 'Zheng|Xiao-Dong|XD|', 'Yao|Xiu-Hua|XH|', 'Zhang|Lan-Fang|LF|', 'Hu|Bai|B|', 'Lu|Yao-Juan|YJ|']
D044466:Asians 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) D016133:Polymerase Chain Reaction D017499:Porokeratosis D011237:Predictive Value of Tests D012867:Skin
mutation Disseminated superficial actinic porokeratosis MVK gene