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 R...

Full description

Saved in:
Bibliographic Details
Published in:Child's nervous system 2011-04, Vol.27 (4), p.603-607
Main Authors: Zhou, Qin, Zheng, Jia-wei, Yang, Xiu-juan, Wang, Hui-jun, Ma, Duan, Qin, Zhong-ping
Format: Article
Language:English
Subjects:
Adolescent
Adult
Asian Continental Ancestry Group - genetics
Base Sequence
Child
DNA Mutational Analysis
Female
Humans
Infant
Male
Medicine
Medicine & Public Health
Middle Aged
Molecular Sequence Data
Mutation
Neurosciences
Neurosurgery
Original Paper
p120 GTPase Activating Protein - genetics
Polymerase Chain Reaction
Polymerase chain reaction (PCR)
RASA1
Sturge-Weber syndrome
Sturge-Weber Syndrome - genetics
Young Adult
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:0256-7040
1433-0350
DOI:10.1007/s00381-010-1258-z