Paternal age and sporadic neurofibromatosis 1: A case-control study and consideration of the methodologic issues

Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland

“…The observation of a birth order effect in new mutation cases (2.9 ± 1.7), showing that later born sibs are more likely to be affected, suggests that parental age has an effect on the mutation rate. The mean paternal age in the cases with a new mutation was significantly higher than in the general population, as also observed by Sergeyev,25 Riccardi et al ,34 Bunin et al ,35 and Takano et al ,36 while Borberg,23Samuelsson,6 Huson et al ,4 Clementi et al ,5 Rodenhiser et al ,26 and Jadayel et al 37 did not report any significant effect of paternal age. The observation of significantly increased maternal age is exceptional and has been reported previously by Riccardi et al 34.…”

Clear Discrepancy in Neurofibromin Expression between NF1 Pheochromocytoma Cells and Non-Tumorous Adrenal Medullary Cells

“…Sporadic NF1 cases without a family history comprise 30% -50% among all NF1 patients, and the significance of advanced paternal age has been indicated [8] [9]. Those cases are caused by a novel mutation in the NF1 gene in the germ cell of either parent.…”

Advanced Reproductive Age and Fertility

“…Although there has been conflicting evidence for an association with pre-term birth and low birth weight, a study conducted in the United States and a population study undertaken in Alberta did not find this association after multiple and logistic regression analysis [79][80][81]. Advanced paternal age has been associated with autosomal dominant disorders such as Alport syndrome, achondroplasia, and neurofibromatosis [82][83][84][85][86][87]. The estimated risk for autosomal dominant disorders in offspring of fathers ≥ 40 years of age is thought to be b 0.5% [78].…”