Detection of RASA1 mutations in patients with sporadic Sturge–Weber syndrome
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Qin Zhou & Jia-wei Zheng & Xiu-juan Yang & Hui-jun Wang & Duan Ma & Zhong-ping Qin
- چاپ و سال / کشور: 2010
Description
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 intronexon 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.
Childs Nerv Syst (2011) 27:603–607 DOI 10.1007/s00381-010-1258-z Received: 7 July 2010 / Accepted: 28 July 2010 / Published online: 7 September 2010
