Summary
A panel of patients with Duchenne and Becker muscular dystrophy (DMD and BMD) has been screened with the cDNA probes Cf56a and Cf23a, which detect exons in the central part of the DMD gene. One or more exons were deleted in 60% of patients. The deletions were mapped and prove to be heterogeneous in size and extent, particularly in DMD. Deletions specific to DMD and to BMD are described. Half of all BMD patients have a deletion of one particular small group of exons; smaller deletions within this same group produce the more severe DMD.
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Bakker E, Broeckhoven Ch van, Bonten EJ, Vooren MJ van de, Veenema H, Hul W van, Van Ommen JJB, Vandenberghe A, Pearson PL (1987) Germline mosaicism and Duchenne muscular dystrophy mutations. Nature 329:554–556
Burghes AHM, Logan C, Hu X, Belfall B, Worton RG, Ray PN (1987) A cDNA clone from the Duchenne/Becker muscular dystrophy gene. Nature 328:434–437
Cross GS, Speer A, Rosenthal A, Forrest SM, Smith TJ, Edwards Y, Flint T, Hill D, Davies KE (1987) Deletions of fetal and adult muscle cDNA in Duchenne and Becker muscular dystrophy. EMBO J 6:3277–3283
Darras BT, Francke U (1987) A partial deletion of the muscular dystropyy gene transmitted twice by an unaffected male. Nature 329: 556–558
Davies KE, Smith T, Bundey S, Read AP, Flint T, Bell M, Speer A (1988) Mild and severe muscular dystrophy associated with deletions in Xp21 of the human X chromosome. J Med Genet 25:9–13
Dunnen JT den, Bakker E, Klein Breteler EG, Pearson OL, Van Ommen GJB (1987) Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels. Nature 329:640–642
Feinberg AP, Vogelstein B (1983) A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity Anal Biochem 132:6–13
Forrest SM, Cross GS, Speer A, Gardner-Medwin D, Burn J, Davies KE (1987a) Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Nature 329:638–640
Forrest SM, Smith TJ, Cross GS, Read AP, Thomas NST, Mountford RC, Harper PS, Geirsson RT, Davies KE (1987b) An effective strategy for prenatal prediction of Duchenne muscular dystrophy. Lancet I:1294–1297
Gillard EF, Affara NA, Yates JRW, Goudie DR, Cooke A, Lambert J, Aitken DA, Ferguson Smith MA (1987) Deletion of DNA probe DXS237 (GMGX9) in twelve of fifteen males with X-linked ichthyosis (steroid sulphatase deficiency). (9th International Workshop on Human Gene Mapping). Cytogenet Cell Genet 46:620
Ginjaar HB, Dunnen JT den, Paassen HMB van, Bakker E, Bertelson C, Boyd Y, Pearson PL, Van Ommen GJB (1987) Cosmid cloning, FIGE mapping, chromosome walking and RFLP study of a distal, intragenic DMC deletion endpoint, expanding the DMD gene to over 2 million bp. (9th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 46:620
Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM (1987) Complete cloning of the DMD cDNA and preliminary genomic organisation of the DMD gene in normal and affected individuals. Cell 50:509–517
Kunkel LM, et al (1986) Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 322:73–77
Lanman JT, Pericak-Vance MA, Bartlett RJ, Chen JC, Yamaoka L, Koh J, Speer MC, Hung W-Y, Roses AD (1987) Familial inheritance of a DXS164 deletion mutation from a heterozygous fenmale. Am J Hum Genet 41:138–144
Maniatis T, Fritsch EF, Sambrook J (eds) (1982) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
Monaco AP, Bertelson CJ, Middlesworth W, Colletti CA, Aldridge J, Fischbeck KH, Bartlett R, Pericak-Vance MA, Roses AD, Kunkel LM (1985) Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature 316:842–845
Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM (1985) Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 323:646–650
Monaco AP, Bertelson CJ, Colletti-Feener C, Kunkel LM (1987) Localisation and cloning of Xp21 deletion breakpoints involved in muscular dystrophy. Hum Genet 75:221–227
Ray PN, Belfall B, Duff C, Logan C, Kean V, Thompson WM, Sylvester JE, Gorski JL, Schmickel RD, Worton RG (1985) Cloning of the breakpoint of an X:21 translocation associated with Duchenne muscular dystrophy. Nature 318:672–675
Read AP, Kerzin-Storrar L, Mountford RC, Elles RG, Harris R (1986) A register-based system for gene tracking in Duchenne muscular dystrophy. J Med Genet 23:581–586
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Read, A.P., Mountford, R.C., Forrest, S.M. et al. Patterns of exon deletions in Duchenne and Becker muscular dystrophy. Hum Genet 80, 152–156 (1988). https://doi.org/10.1007/BF00702859
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DOI: https://doi.org/10.1007/BF00702859