The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre

Tuffery‐Giraud, Sylvie; Saquet, Céline; Chambert, Sylvie; Échenne, B.; Cuisset, J.; Rivier, François; Cossée, Mireille; Philippe, Christophe; Monnier, Nicole; Bieth, Éric; Récan, Dominique; Voelckel, Marie‐Antoinette; Perelman, Sergio; Lambert, Jean-Claude; Malcolm, Sue; Claustres, Mireille

doi:10.1016/j.nmd.2004.05.002

Cited by 35 publications

(26 citation statements)

References 33 publications

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“…As its performance clearly outperforms the Beggs and Chamberlain multiplex-PCR test 6,7 it should be considered as the method of choice for a first DNA analysis of DMD/BMD patients. After a negative MLPA-test, the gene can be scanned for point mutations using RNA 21,22 or DNA-based tests. 23 -25 …”

Section: Discussionmentioning

confidence: 99%

Deletion and duplication screening in the DMD gene using MLPA

et al. 2005

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We have designed a multiplex ligation-dependent probe amplification (MLPA) assay to simultaneously screen all 79 DMD gene exons for deletions and duplications in Duchenne and Becker muscular dystrophy (DMD/BMD) patients. We validated the assay by screening 123 unrelated patients from Serbia and Montenegro already screened using multiplex PCR. MLPA screening confirmed the presence of all previously detected deletions. In addition, we detected seven new deletions, nine duplications, one point mutation, and we were able to precisely determine the extent of all rearrangements. To facilitate MLPAbased screening in laboratories lacking specific equipment, we designed the assay such that it can also be performed using agarose gel analysis and ethidium bromide staining. The MLPA assay as described provides a simple and cheap method for deletion and duplication screening in DMD/BMD patients. The assay outperforms the Beggs and Chamberlain multiplex-PCR test, and should be considered as the method of choice for an initial DNA analysis of DMD/BMD patients.

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Section: Discussionmentioning

confidence: 99%

Deletion and duplication screening in the DMD gene using MLPA

et al. 2005

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“…Famous examples are the neurofibromatosis type 1 gene and the ataxia telangiectasia mutated gene, where a significant number of mutations lead to exon skipping (Teraoka et al 1999;Ars et al 2000;Wimmer et al 2007). In addition, predicted nonsense mutations in in-frame exons of the DMD gene occasionally turn out to actually induce exon skipping and a BMD phenotype, indicative that these nonsense mutations disrupt ESE sites (Shiga et al 1997;Ginjaar et al 2000;Tuffery-Giraud et al 2004;Disset et al 2006). As SR protein binding to ESEs is essential for exon inclusion, blocking ESEs with AONs would be expected to result in exon skipping.…”

Section: Aon Design and Mode Of Actionmentioning

confidence: 99%

Antisense-mediated exon skipping: A versatile tool with therapeutic and research applications

Aartsma‐Rus¹,

Ommen²

2007

RNA

234

177

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Antisense-mediated modulation of splicing is one of the few fields where antisense oligonucleotides (AONs) have been able to live up to their expectations. In this approach, AONs are implemented to restore cryptic splicing, to change levels of alternatively spliced genes, or, in case of Duchenne muscular dystrophy (DMD), to skip an exon in order to restore a disrupted reading frame. The latter allows the generation of internally deleted, but largely functional, dystrophin proteins and would convert a severe DMD into a milder Becker muscular dystrophy phenotype. In fact, exon skipping is currently one of the most promising therapeutic tools for DMD, and a successful first-in-man trial has recently been completed. In this review the applicability of exon skipping for DMD and other diseases is described. For DMD AONs have been designed for numerous exons, which has given us insight into their mode of action, splicing in general, and splicing of the DMD gene in particular. In addition, retrospective analysis resulted in guidelines for AON design for DMD and most likely other genes as well. This knowledge allows us to optimize therapeutic exon skipping, but also opens up a range of other applications for the exon skipping approach.

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“…Receptors such as 4 2, also known as the LFA-1 integrin, determine the capability of leukocytes in endothelial epithelium transmigration and recognize members of the Intercellular adhesion molecule (ICAM) family of adhesion proteins. In contrast, expression of M 2 is restricted to monocytes, macrophages, and granulocytes; it recognizes fibrinogen and inactivated C3b, playing an important role in the phagocytosis of opsonized particles and bacteria [73]. The fourth group of integrins includes three integrins (6 4, 4 7, and E 7); these integrins recognize extracellular matrix components as well as adhesion molecules of the Immunoglobulin superfamily (IgSF).…”

Section: Role Of Cytoskeleton In Regulating Integrin Adhesivenessmentioning

confidence: 99%

Neutrophil Chemotaxis and Polarization: When Asymmetry Means Movement

Cerecedo¹

2012

Hematology - Science and Practice

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The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre

Cited by 35 publications

References 33 publications

Deletion and duplication screening in the DMD gene using MLPA

Deletion and duplication screening in the DMD gene using MLPA

Antisense-mediated exon skipping: A versatile tool with therapeutic and research applications

Neutrophil Chemotaxis and Polarization: When Asymmetry Means Movement

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