Fabry disease: Detection of Alu-mediated exon duplication by NGS

Publication date: Available online 29 March 2019Source: Molecular and Cellular ProbesAuthor(s): Martin Farr, Susana Ferreira, Arwa Al-Dilaimi, Sonja Bögeholz, Alexander Goesmann, Jörn Kalinowski, Cornelius Knabbe, Lothar Faber, João Paulo Oliveira, Volker RudolphAbstractMonogenetic 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.
Source: Molecular and Cellular Probes - Category: Molecular Biology Source Type: research