Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders.
Eur J Neurol
; 20(3): 486-492, 2013 Mar.
Article
em En
| MEDLINE
| ID: mdl-23043354
ABSTRACT
BACKGROUND AND PURPOSE:
Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. We studied three families diagnosed with ARCA.METHODS:
To determine the gene lesions responsible for their disorders, we performed high-density single-nucleotide polymorphism genotyping and exome sequencing.RESULTS:
We identified a new mutation in the SACS gene and a known mutation in SPG11. Notably, we also identified a homozygous variant in APOB, a gene previously associated with ataxia.CONCLUSIONS:
These findings demonstrate that exome sequencing is an efficient and direct diagnostic tool for identifying the causes of complex and genetically heterogeneous neurodegenerative diseases, early-stage disease or cases with limited clinical data.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas
/
Ataxias Espinocerebelares
/
Exoma
/
Proteínas de Choque Térmico
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article