Mutation Of ABCC6 Gene In A Chinese Patient With Pseudoxanthoma Elasticum(PXE)

Background Pseudoxanthoma Elasticum(PXE) is a rare,inherited,systemic disease of elastic tissue that in particular affects the skin,eyes,and cardiovascular system.The prevalence of the disease.in the general population ranges between 1/70,000 and 1/160,000,the ratio of male to female was one to two,and young women are more.More of PXE is sporadic case.Recently,the ABCC6 gene was found to cause PXE,and there are more than 160 mutations up to now.PXE is usually inherited as autosomal recessive trait,but examples of autosomal dominant and sporadic forms of PXE have been reports.Objectives To identify the mutations of the ABCC6 gene in Chinese patient with pseudoxanthoma elasticum(PXE),and to investigate more possible genotype phenotype correlations.Methods Genomic DNA was extracted from peripheral blood of patients and family members with PXE and 100 unrelated normal controls.All 31 coding exons were amplified using polymerase chain reaction(PCR) and products analyzed by direct sequencing.Case reports and papers about PXE nere 20 yeres were searched by Chinese Biology Medicine(CBM) disc and the clinical features of PXE families and the gene mutations of all PXE cases were summarized and analyzed.Results We identified a missense mutation c.3940C＞T(p.R1314W) in a sporadic case.Conclusions The missense mutation(3940C-T) in the ABCC6 gene seem to be the pathologic cause of the Chinese patient.This is the first report of mutation identification in the ABCC6 gene in Chinese PXE patients.This study should be useful for gene therapy and genetic counseling for the patients and explore the correlation between the genotypes and phenotypes.