Neurofibromatosis-1: a maximum likelihood estimation of mutation rate

Hum Genet. 1990 Jan;84(2):116-8. doi: 10.1007/BF00208923.


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 x 10(-5) gametes per generation (95% CI 5.0-8.1).

MeSH terms

  • Adult
  • Child
  • Female
  • Humans
  • Likelihood Functions
  • Male
  • Mutation*
  • Neurofibromatosis 1 / genetics*