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• W2201487076 abstract "Duchenne Muscular Dystrophy (DMD) is a lethal, X-linked, recessive muscle-wasting disorder affecting 1 in 3 500 live male births worldwide, for which only palliative care is available to date. Large exonic deletions or duplications are found in approximately 70% of DMD patients, for which diagnostic testing is available. The remaining 30% carry point utations, which go largely undetected, as no testing is currently offered due to the great s revealed 10 small/point athogenic changes, 39 polymorphisms and 4 changes of uncertain significance. No mutation arrying patients in the cohort and skipping exons 45 55 could benefit a further 12,5%, ion detection in the DMD gene, to help find “family mutations”, us facilitating genetic counselling and ultimate determination of eligibility for mutationased therapy in the future. m size of the DMD gene and the logistical challenges involved. Positive outcomes of research into gene-based therapies necessitate availability of protocols which will extend the scope of testing to detection of point mutations. In this study, the DNA samples of 24 patients previously tested negative for exonic deletions with the mPCR method, were subjected to a complete mutation screen of the coding region of the DMD gene using the MLPA and hrMCA. Four deletions and 2 duplications were revealed by the initial screen with the MLPA. The DNA of the remaining 18 patients was then subjected to mutation scanning with hrMCA on the RotorGeneTM6000, of 96 PCR fragments encompassing the entire coding region of the DMD gene, amplified using M13-tailed primers, and subsequent sequencing of variant fragments. The analysi p pathogenic mutations were found in 8 patients of the cohort. The 10 disease-causing changes identified, consisted of 3 nonsense, 4 frameshifts, 1 splicesite, 1 compound mutation (a GGTG duplication and a missense), 1 missense, and 1 point substitution in the Dp427promoter/exon1 region of the DMD gene. The deleterious nature of the mutations detected was inferred by their nature and by the output of bioinformatic analyses with regard to the effect on splicing, amino acid changes and regulatory sequences. Also, the results of family studies showed that the pathogenic mutations were familial in their origins and that they tracked with the disease within the families. Predictions of future therapeutic options revealed that by virtue of cohort selection none of the patients would benefit from AON-induced skipping of exon 51, which is currently undergoing clinical trials. However, multiexon skipping of exons 6 – 8 could benefit ~30% of the c emphasizing the potential therapeutic impact of the multiexon skipping approach. The study findings suggested that hrMCA could be successfully incorporated into the diagnostic protocol for mutat th b" @default.
• W2201487076 created "2016-06-24" @default.
• W2201487076 creator A5007431591 @default.
• W2201487076 date "2010-01-01" @default.
• W2201487076 modified "2023-09-27" @default.
• W2201487076 title "Duchenne muscular dystrophy : mutation profiling in view of the emerging gene-based therapies" @default.
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