title: Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR.
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.
authors: Martin
authors: M
authors: Krahn
authors: Ana
authors: A
authors: Borges
authors: Claire
authors: C
authors: Navarro
authors: Robert
authors: R
authors: Schuit
authors: Tanya
authors: T
authors: Stojkovic
authors: Yvan
authors: Y
authors: Torrente
authors: Nicolas
authors: N
authors: Wein
authors: Christophe
authors: C
authors: Pécheux
authors: Nicolas
authors: N
authors: Lévy
mesh_terms: D000073939:Dysferlin; D005091:Exons / Q000235:genetics*; D017353:Gene Deletion; D018628:Gene Dosage / Q000235:genetics; D020440:Gene Duplication; D015894:Genome, Human; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009124:Muscle Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation; D021141:Nucleic Acid Amplification Techniques / Q000379:methods; D016133:Polymerase Chain Reaction / Q000379:methods; D011933:Reagent Kits, Diagnostic
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D011933:Reagent Kits, Diagnostic