29 research outputs found

    The TREAT-NMD DMD Global Database: Analysis of more than 7,000 Duchenne Muscular Dystrophy mutations

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    Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations)

    Analysis of chromosome aneuploidy in sperm by fluorescence in situ hybridization -a new approach to the study of male fertility in environmental exposures

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    5nonenoneLAHDETIE J; LARSEN SB; HARKONEN K; PORRU S; ASCLEPIOSLahdetie, J; Larsen, Sb; Harkonen, K; Porru, Stefano; Asclepios

    Quality assurance of semen analysis in multicenter studies

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    6nonenoneGIWERCMAN A; SPANO' M; LAHDETIE J; BONDE JP; PORRU S; ASCLEPIOSGiwercman, A; Spano', M; Lahdetie, J; Bonde, Jp; Porru, Stefano; Asclepios
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