Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

Neuromuscular Disorders

Volumn 14, Issue 1, 2004, Pages 10-18

  Béroud, Christophe ^a,h   Carrié, Alain ^b   Beldjord, Chérif ^a   Deburgrave, Nathalie ^a   Llense, Stéphane ^a   Carelle, Nadège ^a   Peccate, Cécile ^a   Cuisset, Jean Marie ^c   Pandit, Florence ^c   Carré Pigeon, Frédérique ^d   Mayer, Michèle ^e   Bellance, Rémi ^f   Récan, Dominique ^a   Chelly, Jamel ^g   Kaplan, Jean Claude ^a   Leturcq, France ^a,g  

^a Cochin Hospital ^*  (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d REIMS UNIVERSITY HOSPITAL   (France)

^e HÔPITAL SAINT VINCENT DE PAUL   (France)

^f Hopital La Meynard   (France)

^g INSTITUT COCHIN   (France)

^h HÔPITAL ARNAUD DE VILLENEUVE   (France)

Author keywords

Cryptic exons; DMD gene; Dystrophinopathy; Mid intronic substitution

Indexed keywords

DYSTROPHIN; GENOMIC DNA; MESSENGER RNA;

ADULT; ARTICLE; BECKER MUSCULAR DYSTROPHY; CASE REPORT; CLINICAL FEATURE; CONSENSUS SEQUENCE; DISEASE COURSE; DNA FLANKING REGION; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENE ACTIVATION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; INTRON; MALE; MUTATION RATE; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RNA SPLICING;

EID: 10744219888     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(03)00169-X     Document Type: Article

References (40)

1. Ahn A.H., Kunkel L.M. The structural and functional diversity of dystrophin. Nat Genet. 3:1993;283-291.
2. Hoffman E.P., Dressman D. Molecular pathophysiology and targeted therapeutics for muscular dystrophy. Trends Pharmacol Sci. 22:2001;465-470.
3. Wells D.J., Wells K.E. Gene transfer studies in animals: what do they really tell us about the prospects for gene therapy in DMD? Neuromuscul Disord. 12:(Suppl 1):2002;S11-S22.
4. Bornemann A., Anderson L.V. Diagnostic protein expression in human muscle biopsies. Brain Pathol. 10:2000;193-214.
5. Anderson L.V., Davison K. Multiplex Western blotting system for the analysis of muscular dystrophy proteins. Am J Pathol. 154:1999;1017-1022.
6. Roberts R.G., Barby T.F., Manners E., Bobrow M., Bentley D.R. Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes. Am J Hum Genet. 49:1991;298-310.
7. Gardner R.J., Bobrow M., Roberts R.G. The identification of point mutations in Duchenne muscular dystrophy patients by using reverse- transcription PCR and the protein truncation test. Am J Hum Genet. 57:1995;311-320.
8. Burset M., Seledtsov I.A., Solovyev V.V. Analysis of canonical and non-canonical splice sites in mammalian genomes. Nucleic Acids Res. 28:2000;4364-4375.
9. Cartegni L., Chew S.L., Krainer A.R. Listening to silence and understanding non-sense: exonic mutations that affect splicing. Nat Rev Genet. 3:2002;285-298.
10. Senapathy P., Shapiro M.B., Harris N.L. Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project. Methods Enzymol. 183:1990;252-278.
11. Smith C.W., Valcarcel J. Alternative pre-mRNA splicing: the logic of combinatorial control. Trends Biochem Sci. 25:2000;381-388.
12. Hastings M.L., Krainer A.R. Pre-mRNA splicing in the new millennium. Curr Opin Cell Biol. 13:2001;302-309.
13. Modrek B., Lee C. A genomic view of alternative splicing. Nat Genet. 30:2002;13-19.
14. Sun H., Chasin L.A. Multiple splicing defects in an intronic false exon. Mol Cell Biol. 20:2000;6414-6425.
15. Treisman R., Orkin S.H., Maniatis T. Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes. Nature. 302:1983;591-596.
16. Mitchell G.A., Labuda D., Fontaine G., et al. Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation. Proc Natl Acad Sci USA. 88:1991;815-819.
17. Highsmith W.E., Burch L.H., Zhou Z., et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med. 331:1994;974-980.
18. Chillon M., Dork T., Casals T., et al. A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6 kbA→G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype. Am J Hum Genet. 56:1995;623-629.
19. Wang M., Dotzlaw H., Fuqua S.A., Murphy L.C. A point mutation in the human estrogen receptor gene is associated with the expression of an abnormal estrogen receptor mRNA containing a 69 novel nucleotide insertion. Breast Cancer Res Treat. 44:1997;145-151.
20. Vervoort R., Gitzelmann R., Lissens W., Liebaers I. A mutation (IVS8+0.6 kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene. Hum Genet. 103:1998;686-693.
21. Ars E., Serra E., Garcia J., et al. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet. 9:2000;237-247.
22. Pagani F., Buratti E., Stuani C., Bendix R., Dork T., Baralle F.E. A new type of mutation causes a splicing defect in ATM. Nat Genet. 30:2002;426-429.
23. Ishii S., Nakao S., Minamikawa-Tachino R., Desnick R.J., Fan J.Q. Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. Am J Hum Genet. 70:2002;994-1002.
24. Krawczak M., Reiss J., Cooper D.N. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet. 90:1992;41-54.
25. Cooper T.A., Mattox W. The regulation of splice-site selection, and its role in human disease. Am J Hum Genet. 61:1997;259-266.
26. Tuffery-Giraud S., Chambert S., Demaille J., Claustres M. Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects. Hum Mutat. 14:1999;359-368.
27. Ikezawa M., Nishino I., Goto Y., Miike T., Nonaka I. Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy. Mutations in brief no. 213. Online. Hum Mutat. 13:1999;170.
28. Tuffery-Giraud S., Saquet C., Chambert S., Claustres M. Pseudo-exon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy. Hum Mutat. 21:2003;608-614.
29. Ikezawa M., Minami N., Takahashi M., Goto Y., Miike T., Nonaka I. Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis. Brain Dev. 20:1998;165-168.
30. Liu H.X., Cartegni L., Zhang M.Q., Krainer A.R. A mechanism for exon skipping caused by non-sense or missense mutations in BRCA1 and other genes. Nat Genet. 27:2001;55-58.
31. van Deutekom J.C., Bremmer-Bout M., Janson A.A., et al. Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells. Hum Mol Genet. 10:2001;1547-1554.
32. Mann C.J., Honeyman K., Cheng A.J., et al. Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse. Proc Natl Acad Sci USA. 98:2001;42-47.
33. Aartsma-Rus A., Bremmer-Bout M., Janson A.A., den Dunnen J.T., van Ommen G.J., van Deutekom J.C. Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy. Neuromuscul Disord. 12:(Suppl 1):2002;S71-S77.
34. Moizard M.P., Toutain A., Fournier D., et al. Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening. Eur J Hum Genet. 8:2000;552-556.
35. Bastianutto C., Bestard J.A., Lahnakoski K., et al. Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy. Hum Mol Genet. 10:2001;2627-2635.
36. Muntoni F., Wilson L., Marrosu G., et al. A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart. J Clin Invest. 96:1995;693-699.
37. Milasin J., Muntoni F., Severini G.M., et al. A point mutation in the 5′ splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. Hum Mol Genet. 5:1996;73-79.
38. den Dunnen J.T., Antonarakis S.E. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat. 15:2000;7-12.
39. den Dunnen J.T., Antonarakis S.E. Nomenclature for the description of human sequence variations. Hum Genet. 109:2001;121-124.
40. Mann C.J., Honeyman K., McClorey G., Fletcher S., Wilton S.D. Improved antisense oligonucleotide induced exon skipping in the mdx mouse model of muscular dystrophy. J Gene Med. 4:2002;644-654.