Complete FXN deletion in a patient with Friedreich's ataxia.
Genet Test Mol Biomarkers
; 16(9): 1015-8, 2012 Sep.
Article
en En
| MEDLINE
| ID: mdl-22691228
ABSTRACT
AIMS:
Most patients (98%) with Friedreich's ataxia (FRDA) are homozygous for the GAA repeat expansion in FXN. Only a few compound heterozygous patients with an expanded repeat on one allele and a point mutation or an intragenic FXN deletion on the other allele are described. In a minority of the patients only a heterozygous pattern of the repeat expansion can be detected. Using array analysis after GAA repeat expansion testing, we identified a FRDA patient who is compound heterozygous for an expanded GAA repeat and a complete FXN deletion. Since not only repeat expansions and point mutations, but also large rearrangements can be the underlying cause of FRDA, a quantitative test should also be performed in case a patient shows only one allele with an expanded GAA repeat in FXN.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Ataxia de Friedreich
/
Eliminación de Gen
/
Expansión de Repetición de Trinucleótido
/
Proteínas de Unión a Hierro
/
Heterocigoto
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Genet Test Mol Biomarkers
Asunto de la revista:
BIOLOGIA MOLECULAR
/
GENETICA
Año:
2012
Tipo del documento:
Article
País de afiliación:
Países Bajos