Abstract
Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disease with an incidence of ∼1 in 3,500 newborn boys. The DMD locus has a high mutation frequency: one third of the cases is thought to result from a new mutation1. Linkage studies using probes to detect restriction fragment length polymorphisms2 and DNA deletion studies3 have greatly improved DMD carrier detection and prenatal diagnosis4,5. Here we report on two families in which a pERT87 (DXS164) deletion3,6 was transmitted to more than one offspring by women who showed no evidence for the mutation in their own somatic (white blood) cells. We also show that the deletion in both siblings in one of the families is identical, indicating that the deletion must have occurred during mitosis in early germline proliferation, leading to a germline mosaicism. This phenomenon may turn out to be a major factor contributing to the induction of DMD mutations, and has important implications for the counselling of DMD families.
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Bakker, E., Broeckhoven, C., Bonten, E. et al. Germline mosaicism and Duchenne muscular dystrophy mutations. Nature 329, 554–556 (1987). https://doi.org/10.1038/329554a0
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DOI: https://doi.org/10.1038/329554a0
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