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

Childs Nerv Syst. 2011 Apr;27(4):603-7. doi: 10.1007/s00381-010-1258-z. Epub 2010 Sep 7.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Asian People / genetics
  • Base Sequence
  • Child
  • DNA Mutational Analysis
  • Female
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*
  • Polymerase Chain Reaction
  • Sturge-Weber Syndrome / genetics*
  • Young Adult
  • p120 GTPase Activating Protein / genetics*

Substances

  • RASA1 protein, human
  • p120 GTPase Activating Protein