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Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2

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Abstract.

Proximal myotonic myopathy/myotonic dystrophy type 2 (PROMM/DM 2) is caused by an expansion of the (TG)n(TCTG)n(CCTG)n repeat tract in intron 1 of the ZNF9 gene located on chromosome 3q21. Because these expansions show a marked mitotic instability, expanded alleles are often difficult to detect. In order to improve the diagnostic procedure, we applied a combination of pulsed-field gel electrophoresis and semi-quantitative Southern blot analysis with a novel hybridization probe. The combination of these methods led to unequivocal results in about 98% of cases with a clinical diagnosis of PROMM/DM 2. Furthermore, we report the genotype/phenotype correlation in a patient lacking a normal ZNF9 allele and a further proband with a “grey zone” allele.

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Acknowledgements.

The authors would like to thank Ingrid Frommelt, Giesela Koch, Susann Körner, and Sabine Schlenzka for expert technical assistance. The contribution of single patients to this study from several institutions is gratefully acknowledged.

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Authors and Affiliations

  1. Institut für Humangenetik, Otto von Guericke University, Leipziger Strasse 44, 39120 Magdeburg, Germany

    Sibylle Jakubiczka & Peter Wieacker

  2. Klinik für Neurologie II, Otto von Guericke University, Magdeburg, Germany

    Stefan Vielhaber

  3. Praxis für Humangenetik, Cottbus, Germany

    Peter Küpferling

  4. Institut für Humangenetik, University of Würzburg , Würzburg, Germany

    Wolfram Kress

  5. Klinik für Neurologie, Carl Gustav Carus University, Dresden, Germany

    Ulrike Reuner & Bernhard Kunath

Authors
  1. Sibylle Jakubiczka
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  2. Stefan Vielhaber
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  3. Wolfram Kress
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  4. Peter Küpferling
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  5. Ulrike Reuner
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  6. Bernhard Kunath
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  7. Peter Wieacker
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Correspondence to Sibylle Jakubiczka.

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Jakubiczka, S., Vielhaber, S., Kress, W. et al. Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2. Neurogenetics 5, 55–59 (2004). https://doi.org/10.1007/s10048-003-0168-6

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  • DOI: https://doi.org/10.1007/s10048-003-0168-6

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