The impact of rare variants in FUS in essential tremor.
Mov Disord
; 30(5): 721-4, 2015 Apr 15.
Article
en En
| MEDLINE
| ID: mdl-25631824
ABSTRACT
OBJECTIVE:
We analyzed the coding region of the Fused in Sarcoma (FUS) gene in familial essential tremor (ET) and reviewed previous studies assessing FUS variants in ET.BACKGROUND:
ET is often a familial disorder with an autosomal dominant inheritance pattern. A potentially causative variant in FUS has been identified in one ET family. Subsequent studies described further putatively causal variants.METHODS:
We performed DNA sequencing of FUS in 85 unrelated, familial German and French definite ET patients.RESULTS:
We did not find novel variants affecting the protein sequence. Seven previously published studies and data from the exome variant server (EVS) showed that rare exonic variants in FUS are not more frequent in ET than in the general population.CONCLUSIONS:
Our findings provide no evidence for a role of rare genetic variants in the pathogenesis of ET, apart from the initially published FUS mutation segregating in a large ET family.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Temblor Esencial
/
Proteína FUS de Unión a ARN
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Aged
/
Aged80
/
Female
/
Humans
/
Male
/
Middle aged
País/Región como asunto:
Europa
Idioma:
En
Revista:
Mov Disord
Asunto de la revista:
NEUROLOGIA
Año:
2015
Tipo del documento:
Article
País de afiliación:
Alemania