A novel MVK missense mutation in one Chinese family with disseminated superficial actinic porokeratosis |
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Authors: | Wen-sheng Lu Xiao-dong Zheng Xiu-hua Yao Lan-fang Zhang Mu-Qiu Wang Fa-Xing Jiang Si-Ping Zhang Bai Hu |
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Institution: | 1. Department of Dermatology, Anhui Provincial Hospital, No. 17, Lujiang Road, Hefei, 230001, China 2. Department of Dermatology, Anhui Medical University, Hefei, 230032, China 3. Department of Electrocardiography, Anhui Provincial Hospital, No. 17, Lujiang Road, Hefei, 230001, China
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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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