Neuromuscular Disorders
Volume 20, Issue 6 , Pages 422-427 , June 2010

Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies

  • Stephen Abbs

      Affiliations

    • DNA Laboratory, GSTS Pathology, Guy’s Hospital, London SE1 9RT, UK
    • Corresponding Author InformationCorresponding author.
    • ,
  • Sylvie Tuffery-Giraud

      Affiliations

    • Université Montpellier1, UFR Médecine and INSERM U827, Montpellier F-34000, France
    • ,
  • Egbert Bakker

      Affiliations

    • Department of Human and Clinical Genetics, LUMC, 2333 AL Leiden, The Netherlands
    • ,
  • Alessandra Ferlini

      Affiliations

    • Sezione di Genetica Medica, Dipartimento di Medicina Sperimentale e Diagnostica Università di Ferrara, Italy
    • ,
  • Thomas Sejersen

      Affiliations

    • Karolinska Institute, Neuropediatric Unit, Stockholm 17176, Sweden
    • ,
  • Clemens R. Mueller

      Affiliations

    • Universität Würzburg, Institut für Humangenetik, Biozentrum, 97074 Wuerzburg, Germany

References 

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  3. Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet. 1990;86:45–48
  4. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002;30:e57
  5. Yau SC, Bobrow M, Mathew CG, Abbs SJ. Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet. 1996;33:550–558
  6. Darras BT, Harper JF, Francke U. Prenatal diagnosis and detection of carriers with DNA probes in Duchenne’s muscular dystrophy. N Engl J Med. 1987;316:985–992
  7. Hegde MR, Chin EL, Mulle JG, Okou DT, Warren ST, Zwick ME. Microarray-based mutation detection in the dystrophin gene. Hum Mutat. 2008;29:1091–1099
  8. del Gaudio D, Yang Y, Boggs BA, et al. Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Hum Mutat. 2008;29:1100–1107
  9. Bovolenta M, Neri M, Fini S, et al. A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC Genomics. 2008;9:572
  10. White SJ, Aartsma-Rus A, Flanigan KM, et al. Duplications in the DMD gene. Hum Mutat. 2006;27:938–945
  11. Mendell JR, Buzin CH, Feng J, et al. Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology. 2001;57:645–650
  12. Bennett RR, den Dunnen J, O’Brien KF, Darras BT, Kunkel LM. Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet. 2001;2:17
  13. Ashton EJ, Yau SC, Deans ZC, Abbs SJ. Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene. Eur J Hum Genet. 2008;53–61
  14. Roest PAM, Roberts RG, Van Der Tuijn AC, Heikoop JC, Van Ommen GJB, Den Dunnen JT. Protein truncation test (PTT) to rapidly screen the DMD-gene for translation-terminating mutations. Neuromusc Disord. 1993;3:391–394
  15. Almomani R, van der Stoep N, Bakker E, den Dunnen JT, Breuning MH, Ginjaar IB. Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis. Neuromuscul Disord. 2009;383–390
  16. Flanigan KM, von Niederhausern A, Dunn DM, Alder J, Mendell JR, Weiss RB. Rapid direct sequence analysis of the dystrophin gene. Am J Hum Genet. 2003;72:931–939
  17. Mostacciuolo ML, Miorin M, Vitiello L, et al. Occurrence of two different intragenic deletions in two male relatives affected with Duchenne muscular dystrophy. Am J Med Genet. 1994;50:84–86
  18. den Dunnen JT, Bakker E, van Ommen GJ, Pearson PL. The DMD gene analysed by field inversion gel electrophoresis. Br Med Bull. 1989;45:644–658
  19. Norman A, Harper P. A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales. Clin Genet. 1989;36:31–37
  20. Politano L, Nigro V, Nigro G, et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA. 1996;275:1335–1338
  21. Hoogerwaard EM, van der Wouw PA, Wilde AA, et al. Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord. 1999;9:347–351
  22. Emery AE. Clinical and molecular studies in Duchenne muscular dystrophy. Prog Clin Biol Res. 1989;306:15–28
  23. Clinical Molecular Genetics Society. Practice guidelines for the testing for maternal cell contamination (MCC) in prenatal samples for molecular studies. E-publication; 2008.
  24. ESHRE PGD Consortium . Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Hum Reprod. 2005;20:35–48
  25. Koenig M, Beggs AH, Moyer M, et al. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet. 1989;45:498–506
  26. Ginjaar IB, Kneppers AL, v d Meulen JD, et al. Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family. Eur J Hum Genet. 2000;8:793–796
  27. Clinical Molecular Genetics Society and Dutch Society of Clinical Genetic Laboratory Specialists. Practice guidelines for the interpretation and reporting of unclassified variants (UVs) in clinical molecular genetics. E-publication; 2008.
  28. Bridge P. The calculation of genetic risks, 2nd ed. Johns Hopkins Press; 1997.
  29. Helderman-van den Enden AT, de Jong R, den Dunnen JT, et al. Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy. Clin Genet. 2009;75:465–472

PII: S0960-8966(10)00186-0

doi: 10.1016/j.nmd.2010.04.005

Neuromuscular Disorders
Volume 20, Issue 6 , Pages 422-427 , June 2010

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