Genetics and molecular aspects of dystrophinopathies

Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
France Leturcq, S Tuffery-Giraud

Abstract

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the DMD gene that encodes the cytoskeletal protein, dystrophin. Dystrophinopathies are inherited in an X-linked recessive manner. Due to the tremendous size of the gene (2.2 megabases), the DMD locus has a high spontaneous mutation rate, and one third of sporadic cases of DMD are due to a de novo mutation. There are seven tissue-specific promoters in the gene. The skeletal muscular transcript contains 79 exons and encode the full-length protein (427-kDa) located at the inner face of the sarcolemma of muscle fibers. DMD gene mutations are highly heterogeneous. Large rearrangements (deletions or duplications of one or more exons) are most frequently involved while point mutations account for 20 %-30 % of cases. A survey of current strategies of molecular diagnosis is presented here. In particular, the role of muscle biopsy (for dystrophin and RNA analyses) in the diagnosis of dystrophinopathies is discussed. In more than 90 % of cases, the clinical severity is correlated with the impact of the mutations on the reading frame and the expression of the dystrophin (absence or residual amount of mutated protein). Various mechanisms contrib...Continue Reading

References

Feb 19, 2000·Microscopy Research and Technique·C A Sewry
May 20, 2003·Human Mutation·Sylvie Tuffery-GiraudMireille Claustres
Nov 26, 2003·Lancet Neurology·Francesco MuntoniAlessandra Ferlini
May 18, 2010·Biochimica Et Biophysica Acta·Elisabeth Le RumeurJean-François Hubert
Apr 19, 2012·European Journal of Human Genetics : EJHG·Aliya IshmukhametovaSylvie Tuffery-Giraud
Nov 15, 2013·Journal of Human Genetics·Tomoko LeeKazumoto Iijima
Sep 7, 2014·Neuromuscular Disorders : NMD·Madiha TrabelsiJamel Chelly
Oct 31, 2014·Neurology·Karen AnthonyFrancesco Muntoni

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Citations

Jan 30, 2018·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·M G SokolovaA V Gavrichenko

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