Paula Helderman-van den Enden, clinical geneticist, published recently two articles as part of her thesis about the clinical genetic aspects of Duchenne and Becker muscular dystrophy.
The conclusion of the first article is that in DMD families one out of three adult sisters/maternal aunts of patients has not been tested for carrier status by DNA analysis. This was an unexpected finding because in the Netherlands genetic counselling services are well organized. Further studies are planned to investigate the reasons why potential female carriers have not been tested. The study should help in bringing this problem under the attention of the doctors and those who care for DMD/BMD families. Thus more women can be made aware of the implications of being a carrier, both for their offspring and for themselves, and can be offered molecular testing. Read more
The second article shows that Becker muscular dystrophy patients with deletions around exon 51 have a mild phenotype which encourages further development of exon skipping therapy. Theoretically, 13 % of patients with DMD may benefit from antisense-mediated skipping of exon 51 to restore the reading frame, which results in the production of a shortened dystrophin protein. A detailed description with longitudinal follow up is given of three patients with Becker muscular dystrophy with in-frame deletions in the DMD gene encompassing exon 51. Their internally deleted, but essentially functional, dystrophins are identical to those that are expected as end products in DMD patients treated with the exon 51 skipping therapy. Read more
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