Detection of RASA1 mutations in patients with sporadic Sturge-Weber syndrome

摘要

Objective The aim of this study was to identify RASA1 mutation in Chinese population with sporadic SturgeWeber syndrome (SWS). Methods Genomic DNA was obtained from peripheral blood of nine patients with sporadic SWS. The 25 exons, promoter regions (-1,000 bp) as well as intron-exon boundaries of RASA1 were amplified by poly-merase chain reaction, and products were sequenced directly. Results A novel synonymous mutation (c.1229 G > A [p. K420K]) of RASA1 was identified in the present series. Conclusion It implied that RASA1 may be not a virulence gene, but further study is needed to know RASA1 gene mutation in SWS patients.