Epidemiology

For all populations studied, the overall frequency of NF1 is about 1 in 2500-3000, with one third of all cases and half of new presenting cases representing new mutations and the remainder being inherited from an affected parent. The mutation rate is about 1 in 10,000 per allele, or 1 in 5000 live births. 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.[5]

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