Detection of RASA1 mutations in patients with sporadic Sturge-Weber syndrome.
Childs Nerv Syst
; 27(4): 603-7, 2011 Apr.
Article
en En
| MEDLINE
| ID: mdl-20821215
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Sturge-Weber
/
Proteína Activadora de GTPasa p120
/
Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
/
Adult
/
Child
/
Female
/
Humans
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Infant
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Male
/
Middle aged
Idioma:
En
Revista:
Childs Nerv Syst
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
2011
Tipo del documento:
Article
País de afiliación:
China