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Mol Cell Probes. 2019 Jun;45:79-83. doi: 10.1016/j.mcp.2019.03.008. Epub 2019 Mar 29.

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

Author information

1
Clinic for General and Interventional Cardiology/Angiology, Herz- und Diabeteszentrum NRW, Ruhr-Universität Bochum, Bad Oeynhausen, Germany. Electronic address: mfarr@hdz-nrw.de.
2
Unidade de Genética, Departamento de Patologia, Faculdade de Medicina, Universidade do Porto, Alameda Hernâni Monteiro, 4200-319, Porto, Portugal; i3S -Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135, Porto, Portugal.
3
Center for Biotechnology, Bielefeld University, Bielefeld, Germany.
4
Clinic for General and Interventional Cardiology/Angiology, Herz- und Diabeteszentrum NRW, Ruhr-Universität Bochum, Bad Oeynhausen, Germany.
5
Bioinformatics and Systems Biology, Justus-Liebig-Universität Gießen, Gießen, Germany.
6
Institute for Laboratory and Transfusion Medicine, Herz- und Diabeteszentrum NRW, Ruhr-Universität Bochum, Bad Oeynhausen, Germany.
7
Unidade de Genética, Departamento de Patologia, Faculdade de Medicina, Universidade do Porto, Alameda Hernâni Monteiro, 4200-319, Porto, Portugal; i3S -Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135, Porto, Portugal; Serviço de Genética Médica, Centro Hospitalar Universitário de São João, Alameda Hernâni Monteiro, 4200-319, Porto, Portugal.

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.

KEYWORDS:

Alu elements; Exon duplication; Fabry disease; Next-generation sequencing

PMID:
30936019
DOI:
10.1016/j.mcp.2019.03.008

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