Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR.

Martin Krahn, Ana Borges, Claire Navarro, Robert Schuit, Tanya Stojkovic, Yvan Torrente, Nicolas Wein, Christophe Pécheux, Nicolas Lévy

Research output: Contribution to journalArticlepeer-review

Abstract

We report for the first time the characterization of disease-causing exonic rearrangements in the large-sized gene encoding dysferlin. A newly developed kit for multiplex ligation-dependent probe amplification analysis of the dysferlin gene was used for a total of 12 samples from patients with suspected diagnosis of primary dysferlinopathy. This analysis and subsequent genomic quantitative real-time PCR evidenced exonic rearrangements in five patients, including four different exonic deletions and one duplication. Altogether, our findings confirm the existence of exonic rearrangements as disease-causing mutations in primary dysferlinopathies.

Original languageEnglish
Pages (from-to)439-442
Number of pages4
JournalGenetic Testing and Molecular Biomarkers
Volume13
Issue number4
DOIs
Publication statusPublished - Aug 2009

ASJC Scopus subject areas

  • Genetics(clinical)

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