Abstract
VON Recklinghausen neurofibromatosis (NF-1)1–4 is a common autosomal dominant disorder. The estimated new mutation rate (1 x 10−4) is one of the highest for a human disorder1. Here we report that in 12 of 14 families we have analysed, the new mutation is of paternal origin. This result is similar to that recently obtained for retinoblastoma5,6. In other genetic disorders that show a bias towards paternal origin of new mutations, there is a marked increase in the incidence of mutations with paternal age7, consistent with the mutations arising from replication errors in mitosis of spermatogonial stem cells. In retinoblastoma and NF-1, however, such paternal age effects are slight or absent3,7,8. The mechanism or timing of germline mutation could therefore be different in the two cases.
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Jadayel, D., Fain, P., Upadhyaya, M. et al. Paternal origin of new mutations in Von Recklinghausen neurofibromatosis. Nature 343, 558–559 (1990). https://doi.org/10.1038/343558a0
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DOI: https://doi.org/10.1038/343558a0
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