Epidemiology
For all populations studied, the overall frequency of NF1 is about 1 in 2500-3000, with one third of all cases and one half of new presenting cases representing new mutations and the remainder being inherited from an affected parent.[5][6] The mutation rate is about 1 in 8000-10,000 per allele, or 1 in 4000-5000 live births.[7][8] There appears to be a general global uniformity of clinical findings for those countries studied (North America, Europe, Israel, Japan, South Africa), with no clear ethnic or geographic trends.[9]
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