Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-10

AUTHORS

Jaya Punetha, Simin Mansoor, Tulio E Bertorini, Akanchha Kesari, Kristy J Brown, Eric P Hoffman

ABSTRACT

We describe a case of hemi-atrophy in a young adult male, with a positive family history of three maternal uncles with Duchenne muscular dystrophy (DMD). The patient showed progressive weakness localized to the left side, an abnormal electromyography, and creatine kinase levels >3000 IU/l. Muscle biopsy showed both dystrophin-positive and -negative myofibers. An out-of-frame duplication variant in DMD, that is, c.(93+1_94-1)_(649+1_650-1)dup(p.?) resulting in duplication of exons 3-7 was inherited, but the muscle biopsy showed dystrophin mRNA with and without the duplication. Dystrophin quantification using mass spectrometry showed 25% normal dystrophin protein levels in the muscle biopsy from the stronger right side. Sex chromosome aneuploidy was ruled out. We conclude that the patient inherited the duplication variant, but early in development an inner cell mass underwent a somatic recombination event removing the duplication and restoring dystrophin expression. To our knowledge, this is the first report of a reversion leading to somatic mosaicism in DMD. More... »

PAGES

1511-1514

References to SciGraph publications

  • 1998-07. Reverse mutations – spontaneous amelioration or cure of inherited disorders? in EUROPEAN JOURNAL OF PEDIATRICS
  • 2011-04. Mutations to the rescue in NATURE MEDICINE
  • 1999-08-26. Primer3 on the WWW for General Users and for Biologist Programmers in BIOINFORMATICS METHODS AND PROTOCOLS
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    http://scigraph.springernature.com/pub.10.1038/ejhg.2016.22

    DOI

    http://dx.doi.org/10.1038/ejhg.2016.22

    DIMENSIONS

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    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/26956251


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