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

ABSTRACT

OBJECTIVE: The aim of this study was to identify RASA1 mutation in Chinese population with sporadic Sturge-Weber 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 polymerase 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.