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).
Similar content being viewed by others
References
Crow JF (1965) Problems in ascertainment in the analysis of family data. In: Neel JV, Shaw MW, Chull WJ (eds) Genetics and epidemiology of chronic diseases. US Department of Health, Education and Welfare, Washington, DC
Crowe FW, Schull WJ, Neel JV (1956) A clinical, pathological and genetic study of multiple neurofibromatosis. Thomas, Springfield, Ill
Diehl SR, Boehuke M, Erickson RP, Ploughman LM, Seiler KA, Lieberman JL, Clarke HB, Bruce MA, Schorry EK, Pericak-Vance M, O'Connel P, Collins FS (1989) A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene. Am J Hum Genet 44:33–37
Huson SM, Harper PS, Compston DAS (1988) Von Recklinghausen neurofibromatosis: a clinical and population study in South East Wales. Brain 111:1355–1381
Morton NE (1959) Genetic tests under incomplete ascertainment. Am J Hum Genet 11:1–16
Morton NE (1982) Outline of genetic epidemiology. Karger, Basel
Morton NE, Rao DC, Lalouel JM (1983) Methods in genetic epidemiology. Karger, Basel, pp 62–102
Riccardi VM, Eichner JE (1986) Neurofibromatosis. Phenotype, natural history, and pathogenesis. Johns Hopkins University Press, Baltimore
Riccardi VM, Dubson II CE, Chakraborty R, Bontke C (1984) The pathophysiology of neurofibromatosis. IX. Paternal age as a factor in the origin of new mutation. Am J Med Genet 18:169–176
Samuelsson B, Axelsson R (1981) Neurofibromatosis. Acta Derm Venereol (Stockh) 95 [Suppl]:67–71
Sergeyev AS (1975) On the mutation rate of neurofibromatosis. Humangenetik 28:129–139
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
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
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00208923