Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2013-01-09

AUTHORS

Sandra Mercier, Annick Toutain, Aurélie Toussaint, Martine Raynaud, Claire de Barace, Pascale Marcorelles, Laurent Pasquier, Martine Blayau, Caroline Espil, Philippe Parent, Hubert Journel, Leila Lazaro, Jon Andoni Urtizberea, Alexandre Moerman, Laurence Faivre, Bruno Eymard, Kim Maincent, Romain Gherardi, Denys Chaigne, Rabah Ben Yaou, France Leturcq, Jamel Chelly, Isabelle Desguerre

ABSTRACT

The molecular basis underlying the clinical variability in symptomatic Duchenne muscular dystrophy (DMD) carriers are still to be precised. We report 26 cases of early symptomatic DMD carriers followed in the French neuromuscular network. Clinical presentation, muscular histological analysis and type of gene mutation, as well as X-chromosome inactivation (XCI) patterns using DNA extracted from peripheral blood or muscle are detailed. The initial symptoms were significant weakness (88%) or exercise intolerance (27%). Clinical severity varied from a Duchenne-like progression to a very mild Becker-like phenotype. Cardiac dysfunction was present in 19% of the cases. Cognitive impairment was worthy of notice, as 27% of the carriers are concerned. The muscular analysis was always contributive, revealing muscular dystrophy (83%), mosaic in immunostaining (81%) and dystrophin abnormalities in western blot analysis (84%). In all, 73% had exonic deletions or duplications and 27% had point mutations. XCI pattern was biased in 62% of the cases. In conclusion, we report the largest series of manifesting DMD carriers at pediatric age and show that exercise intolerance and cognitive impairment may reveal symptomatic DMD carriers. The complete histological and immunohistological study of the muscle is the key of the diagnosis leading to the dystrophin gene analysis. Our study shows also that cognitive impairment in symptomatic DMD carriers is associated with mutations in the distal part of the DMD gene. XCI study does not fully explain the mechanisms as well as the wide spectrum of clinical phenotype, though a clear correlation between the severity of the phenotype and inactivation bias was observed. More... »

PAGES

855-863

Journal

TITLE

European Journal of Human Genetics

ISSUE

8

VOLUME

21

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ejhg.2012.269

DOI

http://dx.doi.org/10.1038/ejhg.2012.269

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1037284613

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/23299919


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