Patient Age/gender Age at onset, years Mutation café-au-lait spots Neurofibromas Type Location Nucleotide change Protein change Probandin family 1 3.5/F At birth no Missense Exon 10 c.1448A>G D485G Ⅰ:2in family 1 55/F At birth 5 Missense Exon 10 c.1448A>G D485G Ⅱ:1in family 1 31/M At birth 6 Missense Exon 10 c.1448A>G D485G Ⅱ:3in family 1 28/F At birth 6 Missense Exon 10 c.1448A>G D485G Probandin family 2 29/F At birth 3 Missense Exon 4 c.601T>A F201I Sporadic case 1 46/M At birth 25 Missense Exon 10 c.1448A>G D485G Sporadic case 2 40/M At birth 20 Missense Exon 10 c.1448A>G D485G Sporadic case 3 23/F At birth 5 Missense Exon 6 c.871G>T E291X

Table 1: Summary of clinical features and NF1 mutations.