TY - JOUR
T1 - Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR.
AU - Krahn, Martin
AU - Borges, Ana
AU - Navarro, Claire
AU - Schuit, Robert
AU - Stojkovic, Tanya
AU - Torrente, Yvan
AU - Wein, Nicolas
AU - Pécheux, Christophe
AU - Lévy, Nicolas
PY - 2009/8
Y1 - 2009/8
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=70350470003&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=70350470003&partnerID=8YFLogxK
U2 - 10.1089/gtmb.2009.0010
DO - 10.1089/gtmb.2009.0010
M3 - Article
C2 - 19594366
AN - SCOPUS:70350470003
VL - 13
SP - 439
EP - 442
JO - Genetic Testing and Molecular Biomarkers
JF - Genetic Testing and Molecular Biomarkers
SN - 1945-0265
IS - 4
ER -