Development and Validation of a New Molecular Diagnostic Assay for Detection of Myotonic Dystrophy Type 2
| العنوان: | Development and Validation of a New Molecular Diagnostic Assay for Detection of Myotonic Dystrophy Type 2 |
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| المؤلفون: | Elena Costa, Giulia Merletti, Rosanna Cardani, Valeria A. Sansone, Giovanni Meola, Ilaria Merli, Rea Valaperta, Edoardo Spina, Barbara Fossati, Fortunata Lombardi, Elisa Brigonzi |
| المصدر: | Genetic Testing and Molecular Biomarkers. 19:703-709 |
| بيانات النشر: | Mary Ann Liebert Inc, 2015. |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | Adult, Male, musculoskeletal diseases, Pathology, medicine.medical_specialty, Myotonic dystrophy type 2, Myotonic dystrophy, Cohort Studies, Predictive Value of Tests, medicine, Humans, Myotonic Dystrophy, Muscular dystrophy, Myopathy, Genetics (clinical), Aged, DNA Repeat Expansion, medicine.diagnostic_test, business.industry, RNA-Binding Proteins, General Medicine, Middle Aged, medicine.disease, Myotonia, DNA extraction, Predictive value of tests, Female, Reagent Kits, Diagnostic, medicine.symptom, business, Fluorescence in situ hybridization |
| الوصف: | 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.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. |
| تدمد: | 1945-0257 1945-0265 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f52dd5c253026040cdc605b60e4c8895Test https://doi.org/10.1089/gtmb.2015.0135Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....f52dd5c253026040cdc605b60e4c8895 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19450257 19450265 |
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