Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy (original) (raw)

Nature Genetics volume 2, pages 26–30 (1992)Cite this article

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder which maps to chromosome 4qter, distal to the D4S139 locus. The cosmid clone 13E, isolated in a search for homeobox genes, was subsequently mapped to 4q35, also distal to D4S139. A subclone, p13E–11, detects in normal individuals a polymorphic _Eco_RI fragment usually larger than 28 kilobases (kb). Surprisingly, using the same probe we detected de novo DNA rearrangements, characterized by shorter _Eco_RI fragments (14–28 kb), in 5 out of 6 new FSHD cases. In 10 Dutch families analysed, a specific shorter fragment between 14–28 kb co–segregates with FSHD. Both observations indicate that FSHD is caused by independent de novo DNA rearrangements in the _Eco_RI fragment detected by p13E–11.

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Authors and Affiliations

  1. MGC-Department of Human Genetics, Leiden University, 2333 AL, Leiden, The Netherlands
    Cisca Wijmenga, Lodewijk A. Sandkuijl, Hans G. Dauwerse, Anne-Marie Gruter, Marten H. Hofker, Petra Moerer, Gert-Jan B. van Ommen & Rune R. Frants
  2. Department of Neurology, Leiden University, 2333 AL, Leiden, The Netherlands
    Cisca Wijmenga, Anne-Marie Gruter, Petra Moerer & George W. Padberg
  3. Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, Imperial College of Science, Technology and Medicine, London, W2 1PQ, UK
    Jane E. Hewitt, Lorraine N. Clark, Tracy J. Wright & Robert Williamson

Authors

  1. Cisca Wijmenga
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  2. Jane E. Hewitt
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  3. Lodewijk A. Sandkuijl
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  4. Lorraine N. Clark
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  5. Tracy J. Wright
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  6. Hans G. Dauwerse
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  7. Anne-Marie Gruter
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  8. Marten H. Hofker
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  9. Petra Moerer
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  10. Robert Williamson
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  11. Gert-Jan B. van Ommen
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  12. George W. Padberg
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  13. Rune R. Frants
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Wijmenga, C., Hewitt, J., Sandkuijl, L. et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy.Nat Genet 2, 26–30 (1992). https://doi.org/10.1038/ng0992-26

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