Summary
Methods of classical segregation analysis were applied to a sample of 129 sibships with one or more individuals affected by neurofibromatosis-1 (NF-1). The sample consists only of subjects with NF-1; all the probands had been referred for genetic counselling because of café-au-lait spots, and a diagnostic protocol was invariably applied. No deviation from the segregation ratio expected for a fully penetrant Mendelian dominant gene was observed. A maximum likelihood estimate of the proportion of sporadic cases was obtained, and the mutation rate was estimated to be 6.5×10-5 gametes per generation (95% CI 5.0–8.1).
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Clementi, M., Barbujani, G., Turolla, L. et al. Neurofibromatosis-1: a maximum likelihood estimation of mutation rate. Hum Genet 84, 116–118 (1990). https://doi.org/10.1007/BF00208923
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DOI: https://doi.org/10.1007/BF00208923