title: 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.
  
  
  CONCLUSIONS
  It implied that RASA1 may be not a virulence gene, but further study is needed to know RASA1 gene mutation in SWS patients.
authors.affiliation: 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.
authors.forename: Qin
authors.initials: Q
authors.lastname: Zhou
authors.forename: Jia-wei
authors.initials: JW
authors.lastname: Zheng
authors.forename: Xiu-juan
authors.initials: XJ
authors.lastname: Yang
authors.forename: Hui-jun
authors.initials: HJ
authors.lastname: Wang
authors.forename: Duan
authors.initials: D
authors.lastname: Ma
authors.forename: Zhong-ping
authors.initials: ZP
authors.lastname: Qin
mesh_terms: 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*
chemical_list: C557248:RASA1 protein, human; D020729:p120 GTPase Activating Protein
references.citation: Curr Opin Genet Dev. 2005 Jun;15(3):265-9
references.pmid: 15917201
references.citation: Nat Genet. 1993 Nov;5(3):242-7
references.pmid: 8275088
references.citation: Am J Hum Genet. 2003 Dec;73(6):1240-9
references.pmid: 14639529
references.citation: Arch Dermatol Res. 2008 Aug;300(7):385-8
references.pmid: 18327598
references.citation: Am J Med Genet. 1995 Dec 4;59(4):492-4
references.pmid: 8585570
references.citation: Pediatrics. 1976 Aug;58(2):218-22
references.pmid: 951136
references.citation: J Am Acad Dermatol. 2007 Apr;56(4):541-64
references.pmid: 17367610
references.citation: Childs Nerv Syst. 2006 Aug;22(8):909-21
references.pmid: 16823586
references.citation: Hum Mutat. 2008 Jul;29(7):959-65
references.pmid: 18446851
references.citation: Gene. 2002 Feb 20;285(1-2):149-56
references.pmid: 12039041
references.citation: Pediatr Res. 2003 May;53(5):762-9
references.pmid: 12621118
references.citation: Cell. 1990 Nov 16;63(4):851-9
references.pmid: 2121371
references.citation: Eur J Hum Genet. 2002 Jun;10(6):375-80
references.pmid: 12080389
references.citation: Science. 1987 Oct 23;238(4826):542-5
references.pmid: 2821624