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...

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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
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cited_by cdi_FETCH-LOGICAL-c399t-84099e8aed97ce30a84213a56a416c64d756d83f926677dd10ef4c49ac8eeb953
cites cdi_FETCH-LOGICAL-c399t-84099e8aed97ce30a84213a56a416c64d756d83f926677dd10ef4c49ac8eeb953
container_end_page 607
container_issue 4
container_start_page 603
container_title Child's nervous system
container_volume 27
creator Zhou, Qin
Zheng, Jia-wei
Yang, Xiu-juan
Wang, Hui-jun
Ma, Duan
Qin, Zhong-ping
description 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.
doi_str_mv 10.1007/s00381-010-1258-z
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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 &gt; 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.</description><identifier>ISSN: 0256-7040</identifier><identifier>EISSN: 1433-0350</identifier><identifier>DOI: 10.1007/s00381-010-1258-z</identifier><identifier>PMID: 20821215</identifier><language>eng</language><publisher>Berlin/Heidelberg: Berlin/Heidelberg : Springer-Verlag</publisher><subject>Adolescent ; Adult ; Asian Continental Ancestry Group - genetics ; Base Sequence ; Child ; DNA Mutational Analysis ; Female ; Humans ; Infant ; Male ; Medicine ; Medicine &amp; 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</subject><ispartof>Child's nervous system, 2011-04, Vol.27 (4), p.603-607</ispartof><rights>Springer-Verlag 2010</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c399t-84099e8aed97ce30a84213a56a416c64d756d83f926677dd10ef4c49ac8eeb953</citedby><cites>FETCH-LOGICAL-c399t-84099e8aed97ce30a84213a56a416c64d756d83f926677dd10ef4c49ac8eeb953</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27922,27923</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20821215$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Zhou, Qin</creatorcontrib><creatorcontrib>Zheng, Jia-wei</creatorcontrib><creatorcontrib>Yang, Xiu-juan</creatorcontrib><creatorcontrib>Wang, Hui-jun</creatorcontrib><creatorcontrib>Ma, Duan</creatorcontrib><creatorcontrib>Qin, Zhong-ping</creatorcontrib><title>Detection of RASA1 mutations in patients with sporadic Sturge-Weber syndrome</title><title>Child's nervous system</title><addtitle>Childs Nerv Syst</addtitle><addtitle>Childs Nerv Syst</addtitle><description>Objective The aim of this study was to identify RASA1 mutation in Chinese population with sporadic Sturge-Weber syndrome (SWS). 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Zheng, Jia-wei ; Yang, Xiu-juan ; Wang, Hui-jun ; Ma, Duan ; Qin, Zhong-ping</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c399t-84099e8aed97ce30a84213a56a416c64d756d83f926677dd10ef4c49ac8eeb953</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>Base Sequence</topic><topic>Child</topic><topic>DNA Mutational Analysis</topic><topic>Female</topic><topic>Humans</topic><topic>Infant</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine &amp; Public Health</topic><topic>Middle Aged</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Neurosciences</topic><topic>Neurosurgery</topic><topic>Original Paper</topic><topic>p120 GTPase Activating Protein - genetics</topic><topic>Polymerase Chain Reaction</topic><topic>Polymerase chain reaction (PCR)</topic><topic>RASA1</topic><topic>Sturge-Weber syndrome</topic><topic>Sturge-Weber Syndrome - genetics</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Zhou, Qin</creatorcontrib><creatorcontrib>Zheng, Jia-wei</creatorcontrib><creatorcontrib>Yang, Xiu-juan</creatorcontrib><creatorcontrib>Wang, Hui-jun</creatorcontrib><creatorcontrib>Ma, Duan</creatorcontrib><creatorcontrib>Qin, Zhong-ping</creatorcontrib><collection>AGRIS</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Neurosciences Abstracts</collection><jtitle>Child's nervous system</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Zhou, Qin</au><au>Zheng, Jia-wei</au><au>Yang, Xiu-juan</au><au>Wang, Hui-jun</au><au>Ma, Duan</au><au>Qin, Zhong-ping</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Detection of RASA1 mutations in patients with sporadic Sturge-Weber syndrome</atitle><jtitle>Child's nervous system</jtitle><stitle>Childs Nerv Syst</stitle><addtitle>Childs Nerv Syst</addtitle><date>2011-04-01</date><risdate>2011</risdate><volume>27</volume><issue>4</issue><spage>603</spage><epage>607</epage><pages>603-607</pages><issn>0256-7040</issn><eissn>1433-0350</eissn><abstract>Objective The aim of this study was to identify RASA1 mutation in Chinese population with sporadic Sturge-Weber syndrome (SWS). 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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
title Detection of RASA1 mutations in patients with sporadic Sturge-Weber syndrome
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