An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family.
Mov Disord
; 26(5): 905-9, 2011 Apr.
Article
em En
| MEDLINE
| ID: mdl-21287604
ABSTRACT
BACKGROUND:
Autosomal dominant dopa-responsive dystonia is commonly caused by mutations in the guanosine triphosphate cyclohydrolase-1 gene.METHODS:
We report a British family that has been followed for more than 20 years in which no mutations were previously identified.RESULTS:
Reanalysis of this pedigree detected a duplication of guanosine triphosphate cyclohydrolase-1 exon 2 in affected family members. mRNA analysis showed a mutant transcript with a tandem exon 2 duplication. Four family members developed dopa-responsive dystonia, with onset in their late teens, and subsequently developed restless leg syndrome and migraine.CONCLUSIONS:
This is the first report of an intragenic guanosine triphosphate cyclohydrolase-1 duplication in a dopa-responsive dystonia family.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Saúde da Família
/
Genes Duplicados
/
Distonia
/
GTP Cicloidrolase
Limite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Mov Disord
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Reino Unido