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.