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. 2012 Oct 10;21(5):535–539. doi: 10.1038/ejhg.2012.221

Table 4. NF1 mutations in unreported cases of NF1 with PS.

Number Phenotype Family history Mutation detected Type of mutation
1 NF1 Positive c.3586C>T p.L1196F Missense
2 NFNS Positive c.2970delAAT In-frame
3 NFNS Negative Exon 14 deletion Deletion (in-frame)
4 NF1 Positive c.539_540dupTA Truncating
5 NFNS Positive 7702C>T p.Q2568X Nonsense
6 NFNS Negative c.7324del CTT In-frame
7 WS Negative c.4277A>G p.Q1426R Missense
8 WS Positive c.3827G>A p.R1276Q Missense – no splicing effect32
9 WS Negative c.1466A>G p.Y489C Splicing, out-of-frame4
10 WS- family C in Watson's original report12, 13 Positive c.3827 C>G p.R1276Q Missense – no splicing effect32
11 NF1 Positive c.3572C>G p.T1191R Missense – no splicing effect

Abbreviations: NF1, neurofibromatosis type 1; NFNS, NF1–Noonan syndrome; WS, Watson syndrome.