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Analysis of the DYSF mutational spectrum in a large cohort of patients

✍ Scribed by Martin Krahn; Christophe Béroud; Véronique Labelle; Karine Nguyen; Rafaëlle Bernard; Guillaume Bassez; Dominique Figarella-Branger; Carla Fernandez; Julien Bouvenot; Isabelle Richard; Elisabeth Ollagnon-Roman; Jorge A. Bevilacqua; Eric Salvo; Shahram Attarian; Françoise Chapon; Jean-François Pellissier; Jean Pouget; El Hadi Hammouda; Pascal Laforêt; Jon Andoni Urtizberea; Bruno Eymard; France Leturcq; Nicolas Lévy

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
314 KB
Volume
30
Category
Article
ISSN
1059-7794

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✦ Synopsis

Dysferlinopathies belong to the heterogeneous group of autosomal recessive muscular dystrophies. Mutations in the gene encoding dysferlin (DYSF) lead to distinct phenotypes, mainly Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM).

Here, we analysed the mutational data from the largest cohort described to date, a cohort of 134 patients, included based on clinical suspicion of primary dysferlinopathy and/or dysferlin protein deficiency identified on muscle biopsy samples. Data were compiled from 38 patients previously screened for mutations in our laboratory (Nguyen, et al., 2005;Nguyen, et al., 2007), and 96 supplementary patients screened for DYSF mutations using genomic DHPLC analysis, and subsequent sequencing of detected variants, in a routine diagnostic setting. In 89 (66%) out of 134 patients, molecular analysis identified two disease-

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