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


CONCLUSIONS
It implied that RASA1 may be not a virulence gene, but further study is needed to know RASA1 gene mutation in SWS patients.
Zhou
Qin
Q
Department of Oral and Maxillofacial Surgery, Ninth People's Hospital, College of Stomatology, Shanghai Jiao Tong University School of Medicine, Shanghai Key Lab of Stomatology, Shanghai, 200011, China.
Zheng
Jia-wei
JW
Yang
Xiu-juan
XJ
Wang
Hui-jun
HJ
Ma
Duan
D
Qin
Zhong-ping
ZP
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D013341:Sturge-Weber Syndrome / Q000235:genetics*; D055815:Young Adult; D020729:p120 GTPase Activating Protein / Q000235:genetics*
C557248:RASA1 protein, human; D020729:p120 GTPase Activating Protein
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