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

• Type: Article in International Scientific Journal
• Date: 2019

Authors

Farr, M (Author) Other; Ferreira, S (Author) Other; Al Dilaimi, A (Author) Other; Boegeholz, S (Author) Other; Goesmann, A (Author) Other; Kalinowski, J (Author) Other; Knabbe, C (Author) Other; Faber, L (Author) Other; João Paulo Oliveira (Author) FMUP; Rudolph, V (Author) Other

Journal

Title: Molecular and Cellular Probes

Vol. 45

Pages: 79-83

ISSN: 0890-8508

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 2 Citations

Scopus - 3 Citations

Other information

Authenticus ID: P-00Q-E2Y

DOI: 10.1016/j.mcp.2019.03.008

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 5