Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9.
Science
; 293(5531): 864-7, 2001 Aug 03.
Article
em En
| MEDLINE
| ID: mdl-11486088
ABSTRACT
Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, can be caused by a mutation on either chromosome 19q13 (DM1) or 3q21 (DM2/PROMM). DM1 is caused by a CTG expansion in the 3' untranslated region of the dystrophia myotonica-protein kinase gene (DMPK). Several mechanisms have been invoked to explain how this mutation, which does not alter the protein-coding portion of a gene, causes the specific constellation of clinical features characteristic of DM. We now report that DM2 is caused by a CCTG expansion (mean approximately 5000 repeats) located in intron 1 of the zinc finger protein 9 (ZNF9) gene. Parallels between these mutations indicate that microsatellite expansions in RNA can be pathogenic and cause the multisystemic features of DM1 and DM2.
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Base de dados:
MEDLINE
Assunto principal:
Íntrons
/
Dedos de Zinco
/
Proteínas de Ligação a RNA
/
Repetições de Microssatélites
/
Proteínas de Ligação a DNA
/
Distrofia Miotônica
Limite:
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article