Background: Myotonic dystrophy (DM) is the most common adult form of muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia, and multiorgan involvement. Myotonic dystrophy type 2 (DM2) is caused by a [CCTG] expansion in the ZNF9/CNBP gene. The aim of this work was the validation of the new molecular diagnostic test Myotonic Dystrophy type 2 kit-FL. Results: A cohort of 126 individuals was analyzed. The results show that 126/126 patients were correctly identified using the new molecular assay. In particular, 74 were DM2 positive, 39 were DM2/DM1 negative and 13 DM2 negative/DM1 positive. Approximately 9.5% (7/74) of the DM2-positive samples had a single sizeable expansion and 85% (63/74) showed multiple bands or smears. Comparative fluorescence in situ hybridization (FISH) analyses, on muscle biopsies, revealed that the sensitivity and specificity were very high (>99%). Equivalent analytical performances were obtained using different DNA extraction methods. Among affected individuals 87.5% (28/32) had electrical myotonia, 69% (22/32) proximal weakness, 41% (13/32) cataracts, and about 37.5% (12/32) cardiac conduction defects. FISH analysis and clinical data were used to support the genetic analysis.
Development and validation of a new molecular diagnostic assay for detection of myotonic dystrophy type 2 / R. Valaperta, F. Lombardi, R. Cardani, B. Fossati, E. Brigonzi, I. Merli, V. Sansone, G. Merletti, E. Spina, G. Meola, E. Costa. - In: GENETIC TESTING AND MOLECULAR BIOMARKERS. - ISSN 1945-0265. - 19:12(2015), pp. 703-709.
|Titolo:||Development and validation of a new molecular diagnostic assay for detection of myotonic dystrophy type 2|
VALAPERTA, REA (Primo)
MEOLA, GIOVANNI (Penultimo)
|Parole Chiave:||Genetics (clinical)|
|Settore Scientifico Disciplinare:||Settore MED/26 - Neurologia|
|Data di pubblicazione:||2015|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1089/gtmb.2015.0135|
|Appare nelle tipologie:||01 - Articolo su periodico|