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

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

Childs Nerv Syst

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.

Published: April 2011

AI Article Synopsis

Article 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.

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-010-1258-zDOI Listing

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