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

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

Qin Zhou  1 , Jia-wei Zheng, Xiu-juan Yang, Hui-jun Wang, Duan Ma, Zhong-ping Qin
Affiliations

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

Qin Zhou et al. Childs Nerv Syst. 2011 Apr.

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.

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References

    1. Curr Opin Genet Dev. 2005 Jun;15(3):265-9 - PubMed
    1. Nat Genet. 1993 Nov;5(3):242-7 - PubMed
    1. Am J Hum Genet. 2003 Dec;73(6):1240-9 - PubMed
    1. Arch Dermatol Res. 2008 Aug;300(7):385-8 - PubMed
    1. Am J Med Genet. 1995 Dec 4;59(4):492-4 - PubMed

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