Fabry disease: Detection of Alu-mediated exon duplication by NGS.
Mol Cell Probes
; 45: 79-83, 2019 06.
Article
en En
| MEDLINE
| ID: mdl-30936019
ABSTRACT
Monogenetic diseases can be analyzed routinely by targeted DNA sequencing. If causative variants are not found, complementary methods like RNA sequencing or analysis of copy number variations by multiplex ligation-dependent probe amplification have to be considered. In the latter, especially exonic duplications or deletions can be detected, but the precise sites of mutations remain unclear. As we demonstrate in this casuistic report of Fabry disease, next-generation sequencing (NGS) of a long-range PCR product can identify the recombination site directly and illuminate the underlying molecular mechanism.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Enfermedad de Fabry
/
Alfa-Galactosidasa
/
Elementos Alu
/
Duplicaciones Segmentarias en el Genoma
/
Secuenciación de Nucleótidos de Alto Rendimiento
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adolescent
/
Humans
/
Male
Idioma:
En
Año:
2019
Tipo del documento:
Article